Linked Data
dbSNP Id:
rs7847271
gnomAD v2:
9-117830812-G-A
gnomAD v3:
9-115068533-G-A
gnomAD v4:
9-115068533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115068533G>A , CM000671.2:g.115068533G>A | GRCh38 |
| NC_000009.11:g.117830812G>A , CM000671.1:g.117830812G>A | GRCh37 |
| NC_000009.10:g.116870633G>A | NCBI36 |
| NG_029637.1:g.54725C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537320.6:c.3214+5070C>T | ENSP00000443478.1:n.3214+5070C>T | |
| ENST00000542877.6:c.3214+5070C>T | ENSP00000442242.1:n.3214+5070C>T | |
| ENST00000705191.1:c.178+5070C>T | ENSP00000516084.1:n.178+5070C>T | |
| ENST00000705192.1:c.2446-3614C>T | ||
| ENST00000350763.9:c.3215-3614C>T MANE Select | ENSP00000265131.4:n.3215-3614C>T | |
| ENST00000341037.8:c.3215-3614C>T | ENSP00000339553.4:n.3215-3614C>T | |
| ENST00000350763.8:c.3215-3614C>T | ENSP00000265131.4:n.3215-3614C>T | |
| ENST00000423613.6:c.3215-3614C>T | ENSP00000411406.2:n.3215-3614C>T | |
| ENST00000473855.1:n.170+5070C>T | ||
| ENST00000498724.5:n.39+5070C>T | ||
| ENST00000535648.5:c.3214+5070C>T | ENSP00000438152.2:n.3214+5070C>T | |
| ENST00000537320.5:c.3214+5070C>T | ENSP00000443478.1:n.3214+5070C>T | |
| ENST00000542877.5:c.3214+5070C>T | ENSP00000442242.1:n.3214+5070C>T | |
| NM_002160.3:c.3215-3614C>T | NP_002151.2:n.3215-3614C>T | |
| XM_005251972.2:c.3215-3614C>T | XP_005252029.1:n.3215-3614C>T | |
| XM_005251973.2:c.3215-3614C>T | XP_005252030.1:n.3215-3614C>T | |
| XM_005251974.2:c.3214+5070C>T | XP_005252031.1:n.3214+5070C>T | |
| XM_005251975.2:c.3214+5070C>T | XP_005252032.1:n.3214+5070C>T | |
| XM_006717096.2:c.3215-3614C>T | XP_006717159.1:n.3215-3614C>T | |
| XM_006717097.2:c.3215-3614C>T | XP_006717160.1:n.3215-3614C>T | |
| XM_006717098.2:c.3215-3614C>T | XP_006717161.1:n.3215-3614C>T | |
| XM_006717100.2:c.3215-3614C>T | XP_006717163.1:n.3215-3614C>T | |
| XM_006717101.2:c.3215-3614C>T | XP_006717164.1:n.3215-3614C>T | |
| XM_011518622.1:c.3215-3614C>T | XP_011516924.1:n.3215-3614C>T | |
| XM_011518623.1:c.3215-3614C>T | XP_011516925.1:n.3215-3614C>T | |
| XM_011518624.1:c.3215-3614C>T | XP_011516926.1:n.3215-3614C>T | |
| XM_011518625.1:c.3215-3614C>T | XP_011516927.1:n.3215-3614C>T | |
| XM_011518626.1:c.3214+5070C>T | XP_011516928.1:n.3214+5070C>T | |
| XM_011518627.1:c.3214+5070C>T | XP_011516929.1:n.3214+5070C>T | |
| XM_011518628.1:c.3215-3614C>T | XP_011516930.1:n.3215-3614C>T | |
| XM_011518629.1:c.3214+5070C>T | XP_011516931.1:n.3214+5070C>T | |
| XM_011518630.1:c.3215-3614C>T | XP_011516932.1:n.3215-3614C>T | |
| XM_005251972.4:c.3215-3614C>T | XP_005252029.1:n.3215-3614C>T | |
| XM_005251973.4:c.3215-3614C>T | XP_005252030.1:n.3215-3614C>T | |
| XM_005251974.4:c.3214+5070C>T | XP_005252031.1:n.3214+5070C>T | |
| XM_005251975.4:c.3214+5070C>T | XP_005252032.1:n.3214+5070C>T | |
| XM_006717096.4:c.3215-3614C>T | XP_006717159.1:n.3215-3614C>T | |
| XM_006717097.4:c.3215-3614C>T | XP_006717160.1:n.3215-3614C>T | |
| XM_006717098.4:c.3215-3614C>T | XP_006717161.1:n.3215-3614C>T | |
| XM_006717101.4:c.3215-3614C>T | XP_006717164.1:n.3215-3614C>T | |
| XM_011518625.3:c.3215-3614C>T | XP_011516927.1:n.3215-3614C>T | |
| XM_011518626.3:c.3214+5070C>T | XP_011516928.1:n.3214+5070C>T | |
| XM_011518628.3:c.3215-3614C>T | XP_011516930.1:n.3215-3614C>T | |
| XM_011518629.3:c.3214+5070C>T | XP_011516931.1:n.3214+5070C>T | |
| XM_017014678.2:c.3215-3614C>T | XP_016870167.1:n.3215-3614C>T | |
| XM_017014679.2:c.3215-3614C>T | XP_016870168.1:n.3215-3614C>T | |
| XM_017014680.2:c.3215-3614C>T | XP_016870169.1:n.3215-3614C>T | |
| XM_017014681.2:c.3214+5070C>T | XP_016870170.1:n.3214+5070C>T | |
| XM_024447530.1:c.3215-3614C>T | XP_024303298.1:n.3215-3614C>T | |
| NM_002160.4:c.3215-3614C>T MANE Select | NP_002151.2:n.3215-3614C>T |