Linked Data
dbSNP Id:
rs3789875
gnomAD v2:
9-117795288-C-A
gnomAD v3:
9-115033009-C-A
gnomAD v4:
9-115033009-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115033009C>A , CM000671.2:g.115033009C>A | GRCh38 |
| NC_000009.11:g.117795288C>A , CM000671.1:g.117795288C>A | GRCh37 |
| NC_000009.10:g.116835109C>A | NCBI36 |
| NG_029637.1:g.90249G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537320.6:c.3877-1324G>T | ENSP00000443478.1:n.3877-1324G>T | |
| ENST00000542877.6:c.4699-1324G>T | ENSP00000442242.1:n.4699-1324G>T | |
| ENST00000705190.1:c.2731-1324G>T | ENSP00000516083.1:n.2731-1324G>T | |
| ENST00000705191.1:c.1387-1324G>T | ENSP00000516084.1:n.1387-1324G>T | |
| ENST00000705192.1:c.4746-1324G>T | ||
| ENST00000350763.9:c.5788-1324G>T MANE Select | ENSP00000265131.4:n.5788-1324G>T | |
| ENST00000341037.8:c.5242-1324G>T | ENSP00000339553.4:n.5242-1324G>T | |
| ENST00000350763.8:c.5788-1324G>T | ENSP00000265131.4:n.5788-1324G>T | |
| ENST00000423613.6:c.4969-1324G>T | ENSP00000411406.2:n.4969-1324G>T | |
| ENST00000460345.1:n.370-1324G>T | ||
| ENST00000535648.5:c.4699-1324G>T | ENSP00000438152.2:n.4699-1324G>T | |
| ENST00000537320.5:c.3877-1324G>T | ENSP00000443478.1:n.3877-1324G>T | |
| ENST00000542877.5:c.4699-1324G>T | ENSP00000442242.1:n.4699-1324G>T | |
| ENST00000544972.1:c.1475-1324G>T | ||
| NM_002160.3:c.5788-1324G>T | NP_002151.2:n.5788-1324G>T | |
| XM_005251972.2:c.5515-1324G>T | XP_005252029.1:n.5515-1324G>T | |
| XM_005251973.2:c.4696-1324G>T | XP_005252030.1:n.4696-1324G>T | |
| XM_005251974.2:c.4150-1324G>T | XP_005252031.1:n.4150-1324G>T | |
| XM_005251975.2:c.3877-1324G>T | XP_005252032.1:n.3877-1324G>T | |
| XM_006717096.2:c.6064-1324G>T | XP_006717159.1:n.6064-1324G>T | |
| XM_006717097.2:c.5515-1324G>T | XP_006717160.1:n.5515-1324G>T | |
| XM_006717098.2:c.5242-1324G>T | XP_006717161.1:n.5242-1324G>T | |
| XM_006717100.2:c.4969-1324G>T | XP_006717163.1:n.4969-1324G>T | |
| XM_006717101.2:c.4150-1324G>T | XP_006717164.1:n.4150-1324G>T | |
| XM_011518622.1:c.5791-1324G>T | XP_011516924.1:n.5791-1324G>T | |
| XM_011518623.1:c.5791-1324G>T | XP_011516925.1:n.5791-1324G>T | |
| XM_011518624.1:c.5245-1324G>T | XP_011516926.1:n.5245-1324G>T | |
| XM_011518625.1:c.5242-1324G>T | XP_011516927.1:n.5242-1324G>T | |
| XM_011518626.1:c.4972-1324G>T | XP_011516928.1:n.4972-1324G>T | |
| XM_011518627.1:c.4699-1324G>T | XP_011516929.1:n.4699-1324G>T | |
| XM_011518628.1:c.4423-1324G>T | XP_011516930.1:n.4423-1324G>T | |
| XM_011518629.1:c.4423-1324G>T | XP_011516931.1:n.4423-1324G>T | |
| XM_005251972.4:c.5515-1324G>T | XP_005252029.1:n.5515-1324G>T | |
| XM_005251973.4:c.4696-1324G>T | XP_005252030.1:n.4696-1324G>T | |
| XM_005251974.4:c.4150-1324G>T | XP_005252031.1:n.4150-1324G>T | |
| XM_005251975.4:c.3877-1324G>T | XP_005252032.1:n.3877-1324G>T | |
| XM_006717096.4:c.6064-1324G>T | XP_006717159.1:n.6064-1324G>T | |
| XM_006717097.4:c.5515-1324G>T | XP_006717160.1:n.5515-1324G>T | |
| XM_006717098.4:c.5242-1324G>T | XP_006717161.1:n.5242-1324G>T | |
| XM_006717101.4:c.4150-1324G>T | XP_006717164.1:n.4150-1324G>T | |
| XM_011518625.3:c.5242-1324G>T | XP_011516927.1:n.5242-1324G>T | |
| XM_011518626.3:c.4972-1324G>T | XP_011516928.1:n.4972-1324G>T | |
| XM_011518628.3:c.4423-1324G>T | XP_011516930.1:n.4423-1324G>T | |
| XM_011518629.3:c.4423-1324G>T | XP_011516931.1:n.4423-1324G>T | |
| XM_017014678.2:c.6337-1324G>T | XP_016870167.1:n.6337-1324G>T | |
| XM_017014679.2:c.6064-1324G>T | XP_016870168.1:n.6064-1324G>T | |
| XM_017014680.2:c.6061-1324G>T | XP_016870169.1:n.6061-1324G>T | |
| XM_017014681.2:c.5245-1324G>T | XP_016870170.1:n.5245-1324G>T | |
| XM_024447530.1:c.6337-1324G>T | XP_024303298.1:n.6337-1324G>T | |
| NM_002160.4:c.5788-1324G>T MANE Select | NP_002151.2:n.5788-1324G>T |