Linked Data
dbSNP Id:
rs571266756
gnomAD v2:
9-116154100-G-A
gnomAD v3:
9-113391820-G-A
gnomAD v4:
9-113391820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113391820G>A , CM000671.2:g.113391820G>A | GRCh38 |
| NC_000009.11:g.116154100G>A , CM000671.1:g.116154100G>A | GRCh37 |
| NC_000009.10:g.115193921G>A | NCBI36 |
| NG_008716.1:g.14519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.165-197C>T MANE Select | ENSP00000386284.3:n.165-197C>T | |
| ENST00000409155.7:c.165-197C>T | ENSP00000386284.3:n.165-197C>T | |
| ENST00000448137.5:c.192-197C>T | ENSP00000392748.1:n.192-197C>T | |
| ENST00000464749.5:n.258-887C>T | ||
| ENST00000468504.5:n.287-197C>T | ||
| ENST00000482001.1:n.438-197C>T | ||
| ENST00000482847.5:n.438-197C>T | ||
| NM_000031.5:c.165-197C>T | NP_000022.3:n.165-197C>T | |
| XM_005251799.1:c.252-197C>T | XP_005251856.1:n.252-197C>T | |
| XM_011518363.1:c.291-197C>T | XP_011516665.1:n.291-197C>T | |
| XM_011518364.1:c.192-197C>T | XP_011516666.1:n.192-197C>T | |
| NM_001003945.2:c.252-197C>T | NP_001003945.1:n.252-197C>T | |
| NM_001317745.1:c.141-197C>T | NP_001304674.1:n.141-197C>T | |
| XM_011518364.2:c.192-197C>T | XP_011516666.1:n.192-197C>T | |
| XM_024447449.1:c.252-197C>T | XP_024303217.1:n.252-197C>T | |
| XR_002956764.1:n.665-197C>T | ||
| NM_000031.6:c.165-197C>T MANE Select | NP_000022.3:n.165-197C>T | |
| NM_001003945.3:c.252-197C>T | NP_001003945.1:n.252-197C>T | |
| NM_001317745.2:c.141-197C>T | NP_001304674.1:n.141-197C>T |