Linked Data
dbSNP Id:
rs782680047
ExAC:
7:74197852 C / T
gnomAD v2:
7-74197852-C-T
gnomAD v3:
7-74783509-C-T
gnomAD v4:
7-74783509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74783509C>T , CM000669.2:g.74783509C>T | GRCh38 |
| NC_000007.13:g.74197852C>T , CM000669.1:g.74197852C>T | GRCh37 |
| NC_000007.12:g.73835788C>T | NCBI36 |
| NG_009078.2:g.14546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.575-16C>T MANE Select | ENSP00000289473.4:n.575-16C>T | |
| ENST00000289473.10:c.575-16C>T | ENSP00000289473.4:n.575-16C>T | |
| ENST00000289473.8:c.575-16C>T | ENSP00000289473.4:n.575-16C>T | |
| ENST00000398421.6:n.1116C>T | ||
| ENST00000443956.7:n.696-16C>T | ||
| ENST00000449343.6:n.1043C>T | ||
| ENST00000455062.2:n.706C>T | ||
| ENST00000464878.5:c.872C>T | ||
| ENST00000486097.1:n.67C>T | ||
| NM_000265.5:c.575-16C>T | NP_000256.4:n.575-16C>T | |
| XM_005250543.3:c.575-16C>T | XP_005250600.2:n.575-16C>T | |
| XM_005250544.3:c.575-16C>T | XP_005250601.2:n.575-16C>T | |
| XM_011516498.1:c.575-16C>T | XP_011514800.1:n.575-16C>T | |
| XM_011516499.1:c.575-16C>T | XP_011514801.1:n.575-16C>T | |
| XM_011516500.1:c.575-16C>T | XP_011514802.1:n.575-16C>T | |
| XM_011516501.1:c.182-16C>T | XP_011514803.1:n.182-16C>T | |
| XR_242262.3:n.630-16C>T | ||
| XR_927515.1:n.630-16C>T | ||
| NM_000265.6:c.575-16C>T | NP_000256.4:n.575-16C>T | |
| NM_000265.7:c.575-16C>T MANE Select | NP_000256.4:n.575-16C>T |