Linked Data
dbSNP Id:
rs953198135
gnomAD v2:
8-57095916-G-A
gnomAD v3:
8-56183357-G-A
gnomAD v4:
8-56183357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56183357G>A , CM000670.2:g.56183357G>A | GRCh38 |
| NC_000008.10:g.57095916G>A , CM000670.1:g.57095916G>A | GRCh37 |
| NC_000008.9:g.57258470G>A | NCBI36 |
| NG_023310.1:g.32944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316981.8:c.-321-3844C>T MANE Select | ENSP00000325546.3:n.-321-3844C>T | |
| ENST00000316981.7:c.-321-3844C>T | ENSP00000325546.3:n.-321-3844C>T | |
| ENST00000423799.6:c.-103-12168C>T | ENSP00000404067.2:n.-103-12168C>T | |
| ENST00000429357.2:c.-216-12168C>T | ENSP00000416537.2:n.-216-12168C>T | |
| NM_001114634.1:c.-216-12168C>T | NP_001108106.1:n.-216-12168C>T | |
| NM_001114635.1:c.-103-12168C>T | NP_001108107.1:n.-103-12168C>T | |
| NM_002655.2:c.-321-3844C>T | NP_002646.2:n.-321-3844C>T | |
| XM_011517544.1:c.-253-12168C>T | XP_011515846.1:n.-253-12168C>T | |
| XM_011517544.2:c.-253-12168C>T | XP_011515846.1:n.-253-12168C>T | |
| XM_017013576.1:c.-449-3844C>T | XP_016869065.1:n.-449-3844C>T | |
| XM_017013577.1:c.-208-3844C>T | XP_016869066.1:n.-208-3844C>T | |
| NM_002655.3:c.-321-3844C>T MANE Select | NP_002646.2:n.-321-3844C>T | |
| NM_001114634.2:c.-216-12168C>T | NP_001108106.1:n.-216-12168C>T | |
| NM_001114635.2:c.-103-12168C>T | NP_001108107.1:n.-103-12168C>T |