Linked Data
dbSNP Id:
rs2453274
gnomAD v2:
15-44774202-C-T
gnomAD v3:
15-44482004-C-T
gnomAD v4:
15-44482004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44482004C>T , CM000677.2:g.44482004C>T | GRCh38 |
| NC_000015.9:g.44774202C>T , CM000677.1:g.44774202C>T | GRCh37 |
| NC_000015.8:g.42561494C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260327.9:c.187-2220C>T MANE Select | ENSP00000260327.4:n.187-2220C>T | |
| ENST00000260327.8:c.187-2220C>T | ENSP00000260327.4:n.187-2220C>T | |
| ENST00000558373.5:c.187-2220C>T | ENSP00000453051.1:n.187-2220C>T | |
| ENST00000558791.5:c.187-2220C>T | ENSP00000453612.1:n.187-2220C>T | |
| ENST00000558966.5:c.187-2220C>T | ENSP00000452837.1:n.187-2220C>T | |
| ENST00000558968.1:c.187-2220C>T | ENSP00000454154.1:n.187-2220C>T | |
| ENST00000559793.5:c.187-2220C>T | ENSP00000454187.1:n.187-2220C>T | |
| ENST00000560834.1:n.448-2220C>T | ||
| NM_016396.2:c.187-2220C>T | NP_057480.2:n.187-2220C>T | |
| XM_005254441.1:c.187-2220C>T | XP_005254498.1:n.187-2220C>T | |
| XM_006720565.1:c.187-2220C>T | XP_006720628.1:n.187-2220C>T | |
| XM_006720566.2:c.187-2220C>T | XP_006720629.1:n.187-2220C>T | |
| XM_011521665.1:c.187-2220C>T | XP_011519967.1:n.187-2220C>T | |
| XM_011521666.1:c.187-2220C>T | XP_011519968.1:n.187-2220C>T | |
| XR_429454.2:n.385-2220C>T | ||
| XR_429455.2:n.385-2220C>T | ||
| XM_005254441.2:c.187-2220C>T | XP_005254498.1:n.187-2220C>T | |
| XM_006720565.2:c.187-2220C>T | XP_006720628.1:n.187-2220C>T | |
| XM_011521665.2:c.187-2220C>T | XP_011519967.1:n.187-2220C>T | |
| XM_017022306.2:c.187-2220C>T | XP_016877795.1:n.187-2220C>T | |
| XM_017022307.1:c.187-2220C>T | XP_016877796.1:n.187-2220C>T | |
| XR_001751306.1:n.385-2220C>T | ||
| XR_001751307.1:n.385-2220C>T | ||
| XR_001751308.1:n.298-2220C>T | ||
| XR_001751309.1:n.385-2220C>T | ||
| XR_001751310.1:n.385-2220C>T | ||
| XR_001751311.1:n.298-2220C>T | ||
| XR_001751312.1:n.298-2220C>T | ||
| NM_016396.3:c.187-2220C>T MANE Select | NP_057480.2:n.187-2220C>T |