Canonical Allele Identifier: CA11876846
Gene: MAPK10 HGNC NCBI

Linked Data

dbSNP Id: rs11726269
gnomAD v2: 4-87232984-A-G
gnomAD v3: 4-86311831-A-G
gnomAD v4: 4-86311831-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.86311831A>G , CM000666.2:g.86311831A>G GRCh38
NC_000004.11:g.87232984A>G , CM000666.1:g.87232984A>G GRCh37
NC_000004.10:g.87452008A>G NCBI36
NG_013325.1:g.146300T>C
NG_013325.2:g.146300T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000359221.8:c.-148+42699T>C ENSP00000352157.4:n.-148+42699T>C
ENST00000361569.8:c.-7+42699T>C ENSP00000355297.3:n.-7+42699T>C
ENST00000395157.9:c.-7+42699T>C ENSP00000378586.4:n.-7+42699T>C
ENST00000395160.9:c.-7+42699T>C ENSP00000378589.5:n.-7+42699T>C
ENST00000395166.6:c.-148+42699T>C ENSP00000378595.1:n.-148+42699T>C
ENST00000395169.9:c.-7+42699T>C ENSP00000378598.5:n.-7+42699T>C
ENST00000502302.6:c.-148+42699T>C ENSP00000423918.2:n.-148+42699T>C
ENST00000504397.6:n.193-10971T>C
ENST00000505356.6:n.129+42699T>C
ENST00000506773.7:n.280+42699T>C
ENST00000509464.7:c.-7+42699T>C ENSP00000424128.3:n.-7+42699T>C
ENST00000511167.6:c.-7+42699T>C ENSP00000422277.2:n.-7+42699T>C
ENST00000512017.7:c.-147-117424T>C ENSP00000424755.3:n.-147-117424T>C
ENST00000512046.2:c.-7+42699T>C ENSP00000492508.1:n.-7+42699T>C
ENST00000512564.6:c.-49+20712T>C ENSP00000422985.2:n.-49+20712T>C
ENST00000512689.6:c.-148+42699T>C ENSP00000425654.2:n.-148+42699T>C
ENST00000513186.7:c.-7+42699T>C ENSP00000420987.3:n.-7+42699T>C
ENST00000514856.2:n.465-34608T>C
ENST00000515400.3:c.-6-117424T>C ENSP00000424154.3:n.-6-117424T>C
ENST00000515650.2:c.-7+42699T>C ENSP00000492204.1:n.-7+42699T>C
ENST00000564854.2:c.-7+42699T>C ENSP00000491938.1:n.-7+42699T>C
ENST00000638225.1:c.-148+42699T>C ENSP00000491866.1:n.-148+42699T>C
ENST00000638313.1:c.-7+42699T>C ENSP00000492292.1:n.-7+42699T>C
ENST00000638499.1:c.-148+42699T>C ENSP00000491626.1:n.-148+42699T>C
ENST00000638867.2:c.-7+42699T>C ENSP00000490974.2:n.-7+42699T>C
ENST00000638946.2:c.-49+42699T>C ENSP00000492593.2:n.-49+42699T>C
ENST00000639175.1:c.-148+42699T>C ENSP00000491160.1:n.-148+42699T>C
ENST00000639234.1:c.-7+42699T>C ENSP00000491306.1:n.-7+42699T>C
ENST00000639242.1:c.-148+42699T>C ENSP00000491089.1:n.-148+42699T>C
ENST00000639972.2:c.-148+42699T>C ENSP00000492809.1:n.-148+42699T>C
ENST00000639989.2:c.-6-117424T>C ENSP00000491462.1:n.-6-117424T>C
ENST00000640064.1:c.-148+42699T>C ENSP00000491414.1:n.-148+42699T>C
ENST00000640445.1:c.-321-34608T>C ENSP00000491304.1:n.-321-34608T>C
ENST00000640490.1:c.-148+42699T>C ENSP00000492484.1:n.-148+42699T>C
ENST00000640527.1:c.-7+42699T>C ENSP00000491389.1:n.-7+42699T>C
ENST00000640544.1:n.447-34608T>C
ENST00000640858.1:c.-7+42699T>C ENSP00000491122.1:n.-7+42699T>C
ENST00000640970.1:c.-7+42699T>C ENSP00000492231.1:n.-7+42699T>C
ENST00000641010.1:c.-7+42699T>C ENSP00000493178.1:n.-7+42699T>C
ENST00000641016.1:c.-148+23245T>C ENSP00000493210.1:n.-148+23245T>C
ENST00000641020.1:c.59+42699T>C ENSP00000493377.1:n.59+42699T>C
ENST00000641022.1:n.509+42699T>C
ENST00000641041.1:c.-7+42699T>C ENSP00000493339.1:n.-7+42699T>C
ENST00000641047.1:c.-179+42699T>C ENSP00000493455.1:n.-179+42699T>C
ENST00000641050.1:c.-7+42699T>C ENSP00000493270.1:n.-7+42699T>C
ENST00000641051.1:c.-7+42699T>C ENSP00000493275.1:n.-7+42699T>C
ENST00000641052.1:c.-148+42699T>C ENSP00000493407.1:n.-148+42699T>C
ENST00000641061.1:c.-7+10013T>C ENSP00000493274.1:n.-7+10013T>C
ENST00000641066.1:c.-7+42699T>C ENSP00000493072.1:n.-7+42699T>C
ENST00000641072.1:c.-180-34608T>C ENSP00000493080.1:n.-180-34608T>C
ENST00000641080.1:n.298+42699T>C
ENST00000641102.1:c.-7+42699T>C ENSP00000493048.1:n.-7+42699T>C
ENST00000641108.1:n.511+42699T>C
ENST00000641110.1:c.-148+40334T>C ENSP00000493163.1:n.-148+40334T>C
ENST00000641116.1:c.-180-34608T>C ENSP00000492976.1:n.-180-34608T>C
ENST00000641120.1:c.-148+42699T>C ENSP00000493259.1:n.-148+42699T>C
ENST00000641126.1:n.517+42699T>C
ENST00000641148.1:c.-148+42699T>C ENSP00000493022.1:n.-148+42699T>C
ENST00000641157.1:c.-7+42699T>C ENSP00000493363.1:n.-7+42699T>C
ENST00000641166.1:c.-148+42699T>C ENSP00000493350.1:n.-148+42699T>C
ENST00000641170.1:c.-7+42699T>C ENSP00000493237.1:n.-7+42699T>C
ENST00000641203.1:c.-7+42699T>C ENSP00000493409.1:n.-7+42699T>C
ENST00000641207.1:c.-7+28508T>C ENSP00000493450.1:n.-7+28508T>C
ENST00000641208.1:c.-148+42699T>C ENSP00000492922.1:n.-148+42699T>C
ENST00000641217.1:c.-206+42699T>C ENSP00000493313.1:n.-206+42699T>C
ENST00000641221.1:c.-148+42699T>C ENSP00000492956.1:n.-148+42699T>C
ENST00000641237.1:c.-148+14071T>C ENSP00000493215.1:n.-148+14071T>C
ENST00000641253.1:c.-148+42699T>C ENSP00000493361.1:n.-148+42699T>C
ENST00000641265.1:c.-148+42699T>C ENSP00000493306.1:n.-148+42699T>C
ENST00000641273.1:n.518+42699T>C
ENST00000641274.1:c.-6-117424T>C ENSP00000492929.1:n.-6-117424T>C
ENST00000641283.1:c.-148+42699T>C ENSP00000493444.1:n.-148+42699T>C
ENST00000641287.1:c.-148+42699T>C ENSP00000493100.1:n.-148+42699T>C
ENST00000641297.1:c.-148+42699T>C ENSP00000493092.1:n.-148+42699T>C
ENST00000641300.1:n.456+42699T>C
ENST00000641306.1:c.-148+42699T>C ENSP00000493125.1:n.-148+42699T>C
ENST00000641313.1:c.-49+42699T>C ENSP00000493204.1:n.-49+42699T>C
ENST00000641317.1:c.-148+42699T>C ENSP00000493336.1:n.-148+42699T>C
ENST00000641324.1:c.-148+42699T>C ENSP00000492888.1:n.-148+42699T>C
ENST00000641341.1:c.-7+10013T>C ENSP00000493290.1:n.-7+10013T>C
ENST00000641358.1:c.-7+42699T>C ENSP00000493394.1:n.-7+42699T>C
ENST00000641379.1:c.-7+42699T>C ENSP00000492996.1:n.-7+42699T>C
ENST00000641384.1:c.-148+42699T>C ENSP00000492898.1:n.-148+42699T>C
ENST00000641385.1:c.-148+42699T>C ENSP00000493169.1:n.-148+42699T>C
ENST00000641391.1:c.-147-117424T>C ENSP00000493008.1:n.-147-117424T>C
ENST00000641405.1:c.-7+42699T>C ENSP00000493009.1:n.-7+42699T>C
ENST00000641408.1:c.-99-3077T>C ENSP00000492998.1:n.-99-3077T>C
ENST00000641410.1:c.-7+42699T>C ENSP00000493208.1:n.-7+42699T>C
ENST00000641430.1:c.-148+28508T>C ENSP00000492972.1:n.-148+28508T>C
ENST00000641435.1:c.-7+42699T>C ENSP00000493067.1:n.-7+42699T>C
ENST00000641452.1:c.-7+42699T>C ENSP00000493403.1:n.-7+42699T>C
ENST00000641459.1:c.3+47827T>C ENSP00000493360.1:n.3+47827T>C
ENST00000641462.2:c.-7+42699T>C MANE Select ENSP00000493435.1:n.-7+42699T>C
ENST00000641467.1:c.-7+42699T>C ENSP00000493381.1:n.-7+42699T>C
ENST00000641485.1:c.-7+42699T>C ENSP00000493378.1:n.-7+42699T>C
ENST00000641493.1:c.-7+42699T>C ENSP00000493094.1:n.-7+42699T>C
ENST00000641531.1:c.-7+42699T>C ENSP00000493214.1:n.-7+42699T>C
ENST00000641537.1:c.-49+42699T>C ENSP00000493329.1:n.-49+42699T>C
ENST00000641550.1:n.443-10971T>C
ENST00000641553.1:c.-7+42699T>C ENSP00000492913.1:n.-7+42699T>C
ENST00000641555.1:c.-148+10013T>C ENSP00000493395.1:n.-148+10013T>C
ENST00000641561.1:n.561+42699T>C
ENST00000641563.1:n.280+42699T>C
ENST00000641595.1:c.-148+42699T>C ENSP00000493413.1:n.-148+42699T>C
ENST00000641607.1:c.-179+42699T>C ENSP00000492920.1:n.-179+42699T>C
ENST00000641609.1:c.-7+42699T>C ENSP00000493400.1:n.-7+42699T>C
ENST00000641620.1:n.551-3077T>C
ENST00000641629.1:c.-49+141199T>C ENSP00000493165.1:n.-49+141199T>C
ENST00000641634.1:c.-7+42699T>C ENSP00000493428.1:n.-7+42699T>C
ENST00000641647.1:c.-7+10013T>C ENSP00000493375.1:n.-7+10013T>C
ENST00000641653.1:c.-7+47827T>C ENSP00000493225.1:n.-7+47827T>C
ENST00000641657.1:c.-148+42699T>C ENSP00000493105.1:n.-148+42699T>C
ENST00000641675.1:c.-180-34608T>C ENSP00000493358.1:n.-180-34608T>C
ENST00000641677.1:c.3+47827T>C ENSP00000493368.1:n.3+47827T>C
ENST00000641718.1:c.-7+42699T>C ENSP00000493344.1:n.-7+42699T>C
ENST00000641724.1:c.-148+10013T>C ENSP00000493038.1:n.-148+10013T>C
ENST00000641737.1:c.-148+42699T>C ENSP00000493177.1:n.-148+42699T>C
ENST00000641762.1:c.-7+10013T>C ENSP00000492926.1:n.-7+10013T>C
ENST00000641763.1:n.228+42699T>C
ENST00000641767.1:c.-148+42699T>C ENSP00000493309.1:n.-148+42699T>C
ENST00000641777.1:c.-7+42699T>C ENSP00000493032.1:n.-7+42699T>C
ENST00000641782.1:c.-7+42699T>C ENSP00000493117.1:n.-7+42699T>C
ENST00000641798.1:c.-7+42699T>C ENSP00000493258.1:n.-7+42699T>C
ENST00000641803.1:c.-148+42699T>C ENSP00000493049.1:n.-148+42699T>C
ENST00000641823.1:c.-7+23245T>C ENSP00000493408.1:n.-7+23245T>C
ENST00000641826.1:c.-49+42699T>C ENSP00000493294.1:n.-49+42699T>C
ENST00000641831.1:c.-7+42699T>C ENSP00000492886.1:n.-7+42699T>C
ENST00000641854.1:c.-148+42699T>C ENSP00000493030.1:n.-148+42699T>C
ENST00000641855.1:c.-148+42699T>C ENSP00000493426.1:n.-148+42699T>C
ENST00000641862.1:c.-180-34608T>C ENSP00000493396.1:n.-180-34608T>C
ENST00000641864.1:c.-148+42699T>C ENSP00000493451.1:n.-148+42699T>C
ENST00000641873.1:c.-180-34608T>C ENSP00000492967.1:n.-180-34608T>C
ENST00000641902.1:c.-7+42699T>C ENSP00000492903.1:n.-7+42699T>C
ENST00000641903.1:c.-148+42699T>C ENSP00000492988.1:n.-148+42699T>C
ENST00000641907.1:n.581+42699T>C
ENST00000641911.1:c.-148+47827T>C ENSP00000493374.1:n.-148+47827T>C
ENST00000641917.1:c.-7+42699T>C ENSP00000493051.1:n.-7+42699T>C
ENST00000641943.1:c.-321-34608T>C ENSP00000492941.1:n.-321-34608T>C
ENST00000641952.1:c.-7+42699T>C ENSP00000493013.1:n.-7+42699T>C
ENST00000641954.1:c.-7+42699T>C ENSP00000493310.1:n.-7+42699T>C
ENST00000641983.1:c.-7+42699T>C ENSP00000493045.1:n.-7+42699T>C
ENST00000641985.1:n.218+42699T>C
ENST00000641989.1:c.-148+42699T>C ENSP00000493206.1:n.-148+42699T>C
ENST00000641997.1:c.-7+42699T>C ENSP00000493064.1:n.-7+42699T>C
ENST00000642006.1:c.-206+42699T>C ENSP00000493199.1:n.-206+42699T>C
ENST00000642009.1:c.-148+42699T>C ENSP00000493168.1:n.-148+42699T>C
ENST00000642013.1:c.-7+42699T>C ENSP00000492904.1:n.-7+42699T>C
ENST00000642015.1:c.-49+42699T>C ENSP00000493040.1:n.-49+42699T>C
ENST00000642019.1:c.-178-117424T>C ENSP00000493239.1:n.-178-117424T>C
ENST00000642023.1:c.-148+42699T>C ENSP00000493447.1:n.-148+42699T>C
ENST00000642032.1:c.-321-34608T>C ENSP00000493373.1:n.-321-34608T>C
ENST00000642035.1:c.-7+42699T>C ENSP00000493176.1:n.-7+42699T>C
ENST00000642038.1:c.-7+42699T>C ENSP00000492942.1:n.-7+42699T>C
ENST00000642048.1:c.-321-34608T>C ENSP00000492980.1:n.-321-34608T>C
ENST00000642049.1:n.402+42699T>C
ENST00000642060.1:c.-7+42699T>C ENSP00000493282.1:n.-7+42699T>C
ENST00000642081.1:c.-148+42699T>C ENSP00000493249.1:n.-148+42699T>C
ENST00000642098.1:n.517+42699T>C
ENST00000642103.1:c.-76+42699T>C ENSP00000493001.1:n.-76+42699T>C
ENST00000642136.1:n.173+42699T>C
ENST00000310816.8:c.-7+42699T>C ENSP00000309857.4:n.-7+42699T>C
ENST00000359221.7:c.-7+42699T>C ENSP00000352157.3:n.-7+42699T>C
ENST00000361569.6:c.-7+42699T>C ENSP00000355297.2:n.-7+42699T>C
ENST00000395161.6:c.-442+42699T>C ENSP00000378590.3:n.-442+42699T>C
ENST00000395166.5:c.-148+42699T>C ENSP00000378595.1:n.-148+42699T>C
ENST00000395169.7:c.-148+42699T>C ENSP00000378598.3:n.-148+42699T>C
ENST00000449047.6:c.-383+42699T>C ENSP00000414469.2:n.-383+42699T>C
ENST00000502302.5:c.-148+42699T>C ENSP00000423918.1:n.-148+42699T>C
ENST00000503911.5:c.-7+23245T>C ENSP00000421409.1:n.-7+23245T>C
ENST00000504397.5:n.176-10971T>C
ENST00000505356.5:n.115+42699T>C
ENST00000506773.5:c.-7+42699T>C ENSP00000421359.1:n.-7+42699T>C
ENST00000509464.5:c.-148+42699T>C ENSP00000424128.1:n.-148+42699T>C
ENST00000511167.5:c.-7+42699T>C ENSP00000422277.1:n.-7+42699T>C
ENST00000511328.5:c.-7+87916T>C ENSP00000421762.1:n.-7+87916T>C
ENST00000512017.5:c.-7+42699T>C ENSP00000424755.1:n.-7+42699T>C
ENST00000512564.5:c.-148+42699T>C ENSP00000422985.1:n.-148+42699T>C
ENST00000512689.5:c.-148+42699T>C ENSP00000425654.1:n.-148+42699T>C
ENST00000513186.5:c.-7+42699T>C ENSP00000420987.1:n.-7+42699T>C
ENST00000513839.5:n.376+42699T>C
NM_002753.3:c.-7+42699T>C NP_002744.1:n.-7+42699T>C
NM_138980.2:c.-148+42699T>C NP_620446.1:n.-148+42699T>C
NM_138982.2:c.-7+42699T>C NP_620448.1:n.-7+42699T>C
XM_005263129.1:c.-7+42699T>C XP_005263186.1:n.-7+42699T>C
XM_005263130.1:c.-7+42699T>C XP_005263187.1:n.-7+42699T>C
XM_005263131.2:c.-7+42699T>C XP_005263188.1:n.-7+42699T>C
XM_005263135.2:c.-7+42699T>C XP_005263192.1:n.-7+42699T>C
XM_006714268.1:c.-148+42699T>C XP_006714331.1:n.-148+42699T>C
XM_006714269.1:c.-7+42699T>C XP_006714332.1:n.-7+42699T>C
XM_006714271.2:c.-7+42699T>C XP_006714334.1:n.-7+42699T>C
XM_006714272.2:c.-7+42699T>C XP_006714335.1:n.-7+42699T>C
XM_011532117.1:c.-7+42699T>C XP_011530419.1:n.-7+42699T>C
XM_011532118.1:c.-7+42699T>C XP_011530420.1:n.-7+42699T>C
XM_011532119.1:c.-7+42699T>C XP_011530421.1:n.-7+42699T>C
XM_011532120.1:c.-148+42699T>C XP_011530422.1:n.-148+42699T>C
XM_011532121.1:c.-148+42699T>C XP_011530423.1:n.-148+42699T>C
XM_011532123.1:c.-7+42699T>C XP_011530425.1:n.-7+42699T>C
NM_001318067.1:c.-7+42699T>C NP_001304996.1:n.-7+42699T>C
NM_001318068.1:c.-383+42699T>C NP_001304997.1:n.-383+42699T>C
NM_001318069.1:c.-7+42699T>C NP_001304998.1:n.-7+42699T>C
NM_001351624.1:c.-138+42699T>C NP_001338553.1:n.-138+42699T>C
NM_001351625.1:c.-138+42699T>C NP_001338554.1:n.-138+42699T>C
NM_001363657.1:c.-148+42699T>C NP_001350586.1:n.-148+42699T>C
NM_002753.4:c.-7+42699T>C NP_002744.1:n.-7+42699T>C
NM_138980.3:c.-148+42699T>C NP_620446.1:n.-148+42699T>C
NM_138982.3:c.-7+42699T>C NP_620448.1:n.-7+42699T>C
XM_005263129.3:c.-7+42699T>C XP_005263186.1:n.-7+42699T>C
XM_005263130.3:c.-7+42699T>C XP_005263187.1:n.-7+42699T>C
XM_005263131.3:c.-7+42699T>C XP_005263188.1:n.-7+42699T>C
XM_005263135.4:c.-7+42699T>C XP_005263192.1:n.-7+42699T>C
XM_006714268.3:c.-148+42699T>C XP_006714331.1:n.-148+42699T>C
XM_006714269.3:c.-7+42699T>C XP_006714332.1:n.-7+42699T>C
XM_011532117.3:c.-7+42699T>C XP_011530419.1:n.-7+42699T>C
XM_011532118.3:c.-7+42699T>C XP_011530420.1:n.-7+42699T>C
XM_011532120.3:c.-148+42699T>C XP_011530422.1:n.-148+42699T>C
XM_011532121.3:c.-148+42699T>C XP_011530423.1:n.-148+42699T>C
XM_017008420.2:c.-7+42699T>C XP_016863909.1:n.-7+42699T>C
XM_017008423.2:c.-148+42699T>C XP_016863912.1:n.-148+42699T>C
XM_017008427.2:c.-148+42699T>C XP_016863916.1:n.-148+42699T>C
XM_017008428.2:c.-148+42699T>C XP_016863917.1:n.-148+42699T>C
XM_017008429.2:c.-7+42699T>C XP_016863918.1:n.-7+42699T>C
XM_017008430.2:c.-7+42699T>C XP_016863919.1:n.-7+42699T>C
XM_017008432.2:c.-7+42699T>C XP_016863921.1:n.-7+42699T>C
XM_017008433.2:c.-148+42699T>C XP_016863922.1:n.-148+42699T>C
XM_017008434.2:c.-148+42699T>C XP_016863923.1:n.-148+42699T>C
XM_017008435.2:c.-148+42699T>C XP_016863924.1:n.-148+42699T>C
XM_017008436.2:c.-148+42699T>C XP_016863925.1:n.-148+42699T>C
XM_017008437.2:c.-148+42699T>C XP_016863926.1:n.-148+42699T>C
XM_017008441.2:c.-148+42699T>C XP_016863930.1:n.-148+42699T>C
XM_017008445.2:c.-179+42699T>C XP_016863934.1:n.-179+42699T>C
XM_017008447.2:c.-410+42699T>C XP_016863936.1:n.-410+42699T>C
XM_017008448.2:c.-383+42699T>C XP_016863937.1:n.-383+42699T>C
XM_017008449.2:c.-410+42699T>C XP_016863938.1:n.-410+42699T>C
XM_017008450.2:c.-383+42699T>C XP_016863939.1:n.-383+42699T>C
XM_017008451.2:c.-179+42699T>C XP_016863940.1:n.-179+42699T>C
XM_017008452.2:c.-410+42699T>C XP_016863941.1:n.-410+42699T>C
XM_017008454.2:c.-7+42699T>C XP_016863943.1:n.-7+42699T>C
XM_024454139.1:c.-7+42699T>C XP_024309907.1:n.-7+42699T>C
XM_024454140.1:c.-7+42699T>C XP_024309908.1:n.-7+42699T>C
XM_024454141.1:c.-7+42699T>C XP_024309909.1:n.-7+42699T>C
XM_024454142.1:c.-7+42699T>C XP_024309910.1:n.-7+42699T>C
XM_024454144.1:c.-7+42699T>C XP_024309912.1:n.-7+42699T>C
XM_024454145.1:c.-7+42699T>C XP_024309913.1:n.-7+42699T>C
XM_024454146.1:c.-7+42699T>C XP_024309914.1:n.-7+42699T>C
XM_024454148.1:c.-383+42699T>C XP_024309916.1:n.-383+42699T>C
XM_024454149.1:c.-7+42699T>C XP_024309917.1:n.-7+42699T>C
NM_138982.4:c.-7+42699T>C MANE Select NP_620448.1:n.-7+42699T>C
NM_001318069.2:c.-7+42699T>C NP_001304998.1:n.-7+42699T>C
NM_001351624.2:c.-138+42699T>C NP_001338553.1:n.-138+42699T>C
NM_001351625.2:c.-138+42699T>C NP_001338554.1:n.-138+42699T>C
NM_001363657.2:c.-148+42699T>C NP_001350586.1:n.-148+42699T>C
NM_002753.5:c.-7+42699T>C NP_002744.1:n.-7+42699T>C
NM_138980.4:c.-148+42699T>C NP_620446.1:n.-148+42699T>C
NM_001351625.3:c.-138+42699T>C NP_001338554.1:n.-138+42699T>C
NM_001363657.3:c.-148+42699T>C NP_001350586.1:n.-148+42699T>C
NM_002753.6:c.-7+42699T>C NP_002744.1:n.-7+42699T>C