Linked Data
dbSNP Id:
rs758975931
ExAC:
19:51411693 G / A
gnomAD v2:
19-51411693-G-A
gnomAD v3:
19-50908437-G-A
gnomAD v4:
19-50908437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908437G>A , CM000681.2:g.50908437G>A | GRCh38 |
| NC_000019.9:g.51411693G>A , CM000681.1:g.51411693G>A | GRCh37 |
| NC_000019.8:g.56103505G>A | NCBI36 |
| NG_012154.2:g.7302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.534C>T MANE Select | ENSP00000326159.1:p.Cys178= | |
| ENST00000324041.5:c.534C>T | ENSP00000326159.1:p.Cys178= | |
| ENST00000431178.2:c.328+142C>T | ENSP00000399448.2:n.328+142C>T | |
| ENST00000593885.1:c.*29C>T | ENSP00000469769.1:n.*29C>T | |
| ENST00000596876.1:n.536C>T | ||
| ENST00000598305.5:c.*29C>T | ENSP00000469963.1:n.*29C>T | |
| ENST00000599865.5:n.470C>T | ||
| ENST00000602148.1:c.546C>T | ENSP00000472091.1:n.546C>T | |
| NM_001302961.1:c.249C>T | NP_001289890.1:p.Cys83= | |
| NM_004917.4:c.534C>T | NP_004908.4:p.Cys178= | |
| NR_126566.1:n.523C>T | ||
| XM_005259441.3:c.249C>T | XP_005259498.2:p.Cys83= | |
| XM_011527545.1:c.*29C>T | XP_011525847.1:n.*29C>T | |
| XM_011527546.1:c.475+142C>T | XP_011525848.1:n.475+142C>T | |
| XM_011527547.1:c.387C>T | XP_011525849.1:p.Cys129= | |
| XM_005259441.4:c.249C>T | XP_005259498.2:p.Cys83= | |
| XM_011527545.3:c.*29C>T | XP_011525847.1:n.*29C>T | |
| XM_011527546.2:c.475+142C>T | XP_011525848.1:n.475+142C>T | |
| NM_001302961.2:c.249C>T | NP_001289890.1:p.Cys83= | |
| NR_126566.2:n.523C>T | ||
| NM_004917.5:c.534C>T MANE Select | NP_004908.4:p.Cys178= |