Linked Data
ClinVar Variation Id:
208782
ClinVar RCV Id:
RCV000190808
dbSNP Id:
rs797044953
PubMed:
PMID:7477409
PMID:10699187
PMID:11390661
PMID:12130538
PMID:12540855
PMID:12805229
PMID:14681479
PMID:15774718
PMID:16086857
PMID:16919862
PMID:17013555
PMID:17100993
PMID:17151600
PMID:19760623
PMID:21082655
PMID:22495311
PMID:22965684
PMID:22986149
PMID:23020937
PMID:23613140
PMID:24680889
PMID:26482601
PMID:27334371
PMID:27375234
PMID:28866611
PMID:28881385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9447684A>T , CM000665.2:g.9447684A>T | GRCh38 |
| NC_000003.11:g.9489368A>T , CM000665.1:g.9489368A>T | GRCh37 |
| NC_000003.10:g.9464368A>T | NCBI36 |
| NG_034132.1:g.54985A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682236.1:n.238-2A>T | ||
| ENST00000682536.1:c.1879-2A>T | ENSP00000507956.1:n.1879-2A>T | |
| ENST00000684055.1:c.1783-2A>T | ENSP00000507953.1:n.1783-2A>T | |
| ENST00000684606.1:c.*2278-2A>T | ENSP00000506817.1:n.*2278-2A>T | |
| ENST00000688835.1:n.2801-2A>T | ||
| ENST00000691175.1:n.2858-2A>T | ||
| ENST00000691925.1:n.2858-2A>T | ||
| ENST00000691988.1:n.1399-2A>T | ||
| ENST00000693430.1:n.3214-2A>T | ||
| ENST00000402198.7:c.1783-2A>T MANE Select | ENSP00000385852.2:n.1783-2A>T | |
| ENST00000663774.1:c.*1929-2A>T | ENSP00000499452.1:n.*1929-2A>T | |
| ENST00000665872.1:c.*1852-2A>T | ENSP00000499600.1:n.*1852-2A>T | |
| ENST00000666307.1:c.*2157-2A>T | ENSP00000499402.1:n.*2157-2A>T | |
| ENST00000670063.1:c.*1888-2A>T | ENSP00000499725.1:n.*1888-2A>T | |
| ENST00000302463.10:c.1489-2A>T | ENSP00000302028.6:n.1489-2A>T | |
| ENST00000399686.6:c.785-2A>T | ||
| ENST00000402198.5:c.1783-2A>T | ENSP00000385852.1:n.1783-2A>T | |
| ENST00000406341.5:c.1783-2A>T | ENSP00000383939.1:n.1783-2A>T | |
| ENST00000407969.5:c.1840-2A>T | ENSP00000384114.1:n.1840-2A>T | |
| ENST00000413704.5:c.819-2A>T | ||
| ENST00000443339.5:c.*2043-2A>T | ENSP00000393221.1:n.*2043-2A>T | |
| ENST00000464410.1:n.561-2A>T | ||
| ENST00000466242.5:n.1124-2A>T | ||
| ENST00000493918.5:n.1947-2A>T | ||
| NM_001080517.2:c.1783-2A>T | NP_001073986.1:n.1783-2A>T | |
| NM_001292043.1:c.1489-2A>T | NP_001278972.1:n.1489-2A>T | |
| XM_005265301.1:c.1840-2A>T | XP_005265358.1:n.1840-2A>T | |
| XM_005265303.1:c.1726-2A>T | XP_005265360.1:n.1726-2A>T | |
| XM_011533920.1:c.1900-2A>T | XP_011532222.1:n.1900-2A>T | |
| XM_011533921.1:c.1900-2A>T | XP_011532223.1:n.1900-2A>T | |
| XM_011533922.1:c.1879-2A>T | XP_011532224.1:n.1879-2A>T | |
| XM_011533923.1:c.1879-2A>T | XP_011532225.1:n.1879-2A>T | |
| XM_011533924.1:c.1879-2A>T | XP_011532226.1:n.1879-2A>T | |
| XM_011533925.1:c.1861-2A>T | XP_011532227.1:n.1861-2A>T | |
| XM_011533926.1:c.1900-2A>T | XP_011532228.1:n.1900-2A>T | |
| XM_011533927.1:c.1843-2A>T | XP_011532229.1:n.1843-2A>T | |
| XM_011533928.1:c.1822-2A>T | XP_011532230.1:n.1822-2A>T | |
| XM_011533929.1:c.1861-2A>T | XP_011532231.1:n.1861-2A>T | |
| XM_011533930.1:c.1765-2A>T | XP_011532232.1:n.1765-2A>T | |
| XM_011533931.1:c.1489-2A>T | XP_011532233.1:n.1489-2A>T | |
| XM_011533932.1:c.1450-2A>T | XP_011532234.1:n.1450-2A>T | |
| XM_011533933.1:c.1450-2A>T | XP_011532235.1:n.1450-2A>T | |
| XM_011533934.1:c.1900-2A>T | XP_011532236.1:n.1900-2A>T | |
| XM_011533935.1:c.1900-2A>T | XP_011532237.1:n.1900-2A>T | |
| XM_011533936.1:c.1900-2A>T | XP_011532238.1:n.1900-2A>T | |
| NM_001349451.1:c.1489-2A>T | NP_001336380.1:n.1489-2A>T | |
| XM_011533921.2:c.1900-2A>T | XP_011532223.1:n.1900-2A>T | |
| XM_017006767.1:c.1900-2A>T | XP_016862256.1:n.1900-2A>T | |
| XM_017006768.2:c.1879-2A>T | XP_016862257.1:n.1879-2A>T | |
| XM_017006770.1:c.1900-2A>T | XP_016862259.1:n.1900-2A>T | |
| XM_017006771.1:c.1840-2A>T | XP_016862260.1:n.1840-2A>T | |
| XM_017006772.1:c.1861-2A>T | XP_016862261.1:n.1861-2A>T | |
| XM_017006773.1:c.1804-2A>T | XP_016862262.1:n.1804-2A>T | |
| XM_017006774.1:c.1783-2A>T | XP_016862263.1:n.1783-2A>T | |
| XM_017006775.1:c.1804-2A>T | XP_016862264.1:n.1804-2A>T | |
| XM_017006776.1:c.1489-2A>T | XP_016862265.1:n.1489-2A>T | |
| XM_017006777.1:c.1489-2A>T | XP_016862266.1:n.1489-2A>T | |
| XM_017006778.1:c.1489-2A>T | XP_016862267.1:n.1489-2A>T | |
| XM_017006779.1:c.1450-2A>T | XP_016862268.1:n.1450-2A>T | |
| XM_017006780.1:c.1450-2A>T | XP_016862269.1:n.1450-2A>T | |
| XM_017006782.1:c.1900-2A>T | XP_016862271.1:n.1900-2A>T | |
| XM_017006783.1:c.1222-2A>T | XP_016862272.1:n.1222-2A>T | |
| XM_017006784.1:c.1900-2A>T | XP_016862273.1:n.1900-2A>T | |
| XM_017006785.1:c.1900-2A>T | XP_016862274.1:n.1900-2A>T | |
| XM_017006786.1:c.1900-2A>T | XP_016862275.1:n.1900-2A>T | |
| XM_024453620.1:c.1861-2A>T | XP_024309388.1:n.1861-2A>T | |
| XM_024453621.1:c.1537-2A>T | XP_024309389.1:n.1537-2A>T | |
| XR_001740195.2:n.6069-2A>T | ||
| NM_001080517.3:c.1783-2A>T MANE Select | NP_001073986.1:n.1783-2A>T | |
| NM_001292043.2:c.1489-2A>T | NP_001278972.1:n.1489-2A>T | |
| NM_001349451.2:c.1489-2A>T | NP_001336380.1:n.1489-2A>T |