Linked Data
dbSNP Id:
rs17679127
gnomAD v2:
14-103890091-A-G
gnomAD v3:
14-103423754-A-G
gnomAD v4:
14-103423754-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103423754A>G , CM000676.2:g.103423754A>G | GRCh38 |
| NC_000014.8:g.103890091A>G , CM000676.1:g.103890091A>G | GRCh37 |
| NC_000014.7:g.102959844A>G | NCBI36 |
| NG_030339.2:g.43391A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429436.7:c.244-4633A>G MANE Select | ENSP00000411397.2:n.244-4633A>G | |
| ENST00000556744.2:c.244-4633A>G | ENSP00000451623.2:n.244-4633A>G | |
| ENST00000558223.6:n.859-4633A>G | ||
| ENST00000559328.6:n.859-4633A>G | ||
| ENST00000560417.6:c.244-4633A>G | ENSP00000454169.2:n.244-4633A>G | |
| ENST00000560603.6:n.849-4633A>G | ||
| ENST00000561164.2:n.859-4633A>G | ||
| ENST00000561314.6:c.-75-4633A>G | ENSP00000452893.2:n.-75-4633A>G | |
| ENST00000676475.1:n.882-4633A>G | ||
| ENST00000676518.1:c.*17-4633A>G | ENSP00000504240.1:n.*17-4633A>G | |
| ENST00000676564.1:c.244-4633A>G | ENSP00000504834.1:n.244-4633A>G | |
| ENST00000676645.1:c.244-4633A>G | ENSP00000504084.1:n.244-4633A>G | |
| ENST00000676694.1:c.244-4633A>G | ENSP00000503113.1:n.244-4633A>G | |
| ENST00000676830.1:c.244-4633A>G | ENSP00000503629.1:n.244-4633A>G | |
| ENST00000676838.1:c.244-4633A>G | ENSP00000504654.1:n.244-4633A>G | |
| ENST00000676897.1:c.244-4633A>G | ENSP00000503095.1:n.244-4633A>G | |
| ENST00000676905.1:c.244-4633A>G | ENSP00000503817.1:n.244-4633A>G | |
| ENST00000676938.1:c.244-4633A>G | ENSP00000503568.1:n.244-4633A>G | |
| ENST00000677035.1:c.244-4633A>G | ENSP00000503036.1:n.244-4633A>G | |
| ENST00000677051.1:c.244-4633A>G | ENSP00000504688.1:n.244-4633A>G | |
| ENST00000677104.1:c.244-4633A>G | ENSP00000503424.1:n.244-4633A>G | |
| ENST00000677118.1:c.244-4633A>G | ENSP00000502934.1:n.244-4633A>G | |
| ENST00000677133.1:c.244-4633A>G | ENSP00000503503.1:n.244-4633A>G | |
| ENST00000677214.1:n.882-4633A>G | ||
| ENST00000677228.1:c.244-4633A>G | ENSP00000504082.1:n.244-4633A>G | |
| ENST00000677347.1:c.244-4633A>G | ENSP00000503320.1:n.244-4633A>G | |
| ENST00000677348.1:c.*1-4633A>G | ENSP00000504856.1:n.*1-4633A>G | |
| ENST00000677360.1:c.52-4633A>G | ENSP00000504622.1:n.52-4633A>G | |
| ENST00000677404.1:c.244-4633A>G | ENSP00000504191.1:n.244-4633A>G | |
| ENST00000677432.1:c.243+18487A>G | ENSP00000502999.1:n.243+18487A>G | |
| ENST00000677560.1:c.-75-4633A>G | ENSP00000504069.1:n.-75-4633A>G | |
| ENST00000677604.1:c.*17-4633A>G | ENSP00000503441.1:n.*17-4633A>G | |
| ENST00000677829.1:c.52-4633A>G | ENSP00000503216.1:n.52-4633A>G | |
| ENST00000677857.1:c.244-4633A>G | ENSP00000503812.1:n.244-4633A>G | |
| ENST00000677869.1:c.*17-4633A>G | ENSP00000503644.1:n.*17-4633A>G | |
| ENST00000677942.1:c.244-4633A>G | ENSP00000504212.1:n.244-4633A>G | |
| ENST00000678022.1:c.244-4633A>G | ENSP00000503622.1:n.244-4633A>G | |
| ENST00000678071.1:n.849-4633A>G | ||
| ENST00000678091.1:n.43+29950A>G | ||
| ENST00000678169.1:c.244-4633A>G | ENSP00000504131.1:n.244-4633A>G | |
| ENST00000678175.1:c.244-4633A>G | ENSP00000504859.1:n.244-4633A>G | |
| ENST00000678179.1:c.244-4633A>G | ENSP00000503689.1:n.244-4633A>G | |
| ENST00000678207.1:c.244-4633A>G | ENSP00000503844.1:n.244-4633A>G | |
| ENST00000678237.1:c.-48+18487A>G | ENSP00000502861.1:n.-48+18487A>G | |
| ENST00000678278.1:c.244-4633A>G | ENSP00000503551.1:n.244-4633A>G | |
| ENST00000678302.1:c.244-4633A>G | ENSP00000503018.1:n.244-4633A>G | |
| ENST00000678343.1:c.244-4633A>G | ENSP00000502973.1:n.244-4633A>G | |
| ENST00000678423.1:c.244-4633A>G | ENSP00000504088.1:n.244-4633A>G | |
| ENST00000678619.1:c.52-4633A>G | ENSP00000504493.1:n.52-4633A>G | |
| ENST00000678897.1:c.244-4633A>G | ENSP00000504537.1:n.244-4633A>G | |
| ENST00000678999.1:c.244-4633A>G | ENSP00000502944.1:n.244-4633A>G | |
| ENST00000679105.1:c.*224-4633A>G | ENSP00000504680.1:n.*224-4633A>G | |
| ENST00000679330.1:c.244-4633A>G | ENSP00000503975.1:n.244-4633A>G | |
| ENST00000216288.11:c.244-4633A>G | ENSP00000216288.7:n.244-4633A>G | |
| ENST00000303622.13:c.244-4633A>G | ENSP00000303698.9:n.244-4633A>G | |
| ENST00000335102.9:c.244-4633A>G | ENSP00000335347.5:n.244-4633A>G | |
| ENST00000416682.6:c.244-4633A>G | ENSP00000408092.2:n.244-4633A>G | |
| ENST00000429436.6:c.244-4633A>G | ENSP00000411397.2:n.244-4633A>G | |
| ENST00000440884.7:c.244-4633A>G | ENSP00000402104.3:n.244-4633A>G | |
| ENST00000553942.5:c.244-4633A>G | ENSP00000450772.1:n.244-4633A>G | |
| ENST00000558223.5:n.270-4633A>G | ||
| ENST00000558698.5:n.52-4633A>G | ||
| ENST00000559268.5:n.135-4633A>G | ||
| ENST00000559328.5:n.480-4633A>G | ||
| ENST00000560417.5:c.243+18487A>G | ENSP00000454169.1:n.243+18487A>G | |
| ENST00000560603.5:n.514-4633A>G | ||
| ENST00000560731.5:n.135-4633A>G | ||
| ENST00000561071.5:n.135-4633A>G | ||
| ENST00000561225.1:c.208-4633A>G | ENSP00000452829.1:n.208-4633A>G | |
| NM_001128918.2:c.244-4633A>G | NP_001122390.2:n.244-4633A>G | |
| NM_001128919.2:c.244-4633A>G | NP_001122391.2:n.244-4633A>G | |
| NM_001128920.2:c.244-4633A>G | NP_001122392.2:n.244-4633A>G | |
| NM_001128921.2:c.244-4633A>G | NP_001122393.2:n.244-4633A>G | |
| NM_002376.6:c.244-4633A>G | NP_002367.5:n.244-4633A>G | |
| XM_005267641.3:c.244-4633A>G | XP_005267698.2:n.244-4633A>G | |
| XM_005267642.3:c.244-4633A>G | XP_005267699.2:n.244-4633A>G | |
| XM_005267643.3:c.244-4633A>G | XP_005267700.2:n.244-4633A>G | |
| XM_006720146.2:c.202-4633A>G | XP_006720209.1:n.202-4633A>G | |
| XM_011536768.1:c.243+18487A>G | XP_011535070.1:n.243+18487A>G | |
| XM_011536769.1:c.4-4633A>G | XP_011535071.1:n.4-4633A>G | |
| XM_011536770.1:c.-75-4633A>G | XP_011535072.1:n.-75-4633A>G | |
| XM_011536771.1:c.-101-4633A>G | XP_011535073.1:n.-101-4633A>G | |
| XM_005267641.5:c.244-4633A>G | XP_005267698.2:n.244-4633A>G | |
| XM_005267642.5:c.244-4633A>G | XP_005267699.2:n.244-4633A>G | |
| XM_005267643.5:c.244-4633A>G | XP_005267700.2:n.244-4633A>G | |
| XM_011536769.3:c.4-4633A>G | XP_011535071.1:n.4-4633A>G | |
| XM_017021291.2:c.244-4633A>G | XP_016876780.1:n.244-4633A>G | |
| XM_017021292.2:c.244-4633A>G | XP_016876781.1:n.244-4633A>G | |
| XM_017021293.1:c.202-4633A>G | XP_016876782.1:n.202-4633A>G | |
| XM_017021294.2:c.52-4633A>G | XP_016876783.1:n.52-4633A>G | |
| XM_017021295.2:c.52-4633A>G | XP_016876784.1:n.52-4633A>G | |
| XM_017021296.2:c.52-4633A>G | XP_016876785.1:n.52-4633A>G | |
| XM_017021297.2:c.52-4633A>G | XP_016876786.1:n.52-4633A>G | |
| XM_017021298.2:c.52-4633A>G | XP_016876787.1:n.52-4633A>G | |
| XM_017021299.2:c.52-4633A>G | XP_016876788.1:n.52-4633A>G | |
| XM_017021301.2:c.-101-4633A>G | XP_016876790.1:n.-101-4633A>G | |
| XM_017021306.2:c.-157-4633A>G | XP_016876795.1:n.-157-4633A>G | |
| XM_017021307.2:c.-108-4633A>G | XP_016876796.1:n.-108-4633A>G | |
| XM_017021308.2:c.-101-4633A>G | XP_016876797.1:n.-101-4633A>G | |
| XM_024449583.1:c.202-4633A>G | XP_024305351.1:n.202-4633A>G | |
| XM_024449584.1:c.-101-4633A>G | XP_024305352.1:n.-101-4633A>G | |
| XM_024449585.1:c.-101-4633A>G | XP_024305353.1:n.-101-4633A>G | |
| XM_024449586.1:c.-101-4633A>G | XP_024305354.1:n.-101-4633A>G | |
| XM_024449587.1:c.-101-4633A>G | XP_024305355.1:n.-101-4633A>G | |
| XM_024449588.1:c.-101-4633A>G | XP_024305356.1:n.-101-4633A>G | |
| XM_024449589.1:c.-157-4633A>G | XP_024305357.1:n.-157-4633A>G | |
| XM_024449590.1:c.-157-4633A>G | XP_024305358.1:n.-157-4633A>G | |
| XM_024449591.1:c.-108-4633A>G | XP_024305359.1:n.-108-4633A>G | |
| NM_001128918.3:c.244-4633A>G MANE Select | NP_001122390.2:n.244-4633A>G | |
| NM_001128919.3:c.244-4633A>G | NP_001122391.2:n.244-4633A>G | |
| NM_001128920.3:c.244-4633A>G | NP_001122392.2:n.244-4633A>G | |
| NM_001128921.3:c.244-4633A>G | NP_001122393.2:n.244-4633A>G | |
| NM_002376.7:c.244-4633A>G | NP_002367.5:n.244-4633A>G |