Linked Data
gnomAD v4:
12-57094623-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57094623G>T , CM000674.2:g.57094623G>T | GRCh38 |
| NC_000012.11:g.57488406G>T , CM000674.1:g.57488406G>T | GRCh37 |
| NC_000012.10:g.55774673G>T | NCBI36 |
| NG_021272.1:g.21791C>A | |
| NG_021272.2:g.42517C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300131.8:c.1480G>T MANE Select | ENSP00000300131.3:p.Gly494Trp | |
| ENST00000300131.7:c.1480G>T | ENSP00000300131.3:p.Gly494Trp | |
| ENST00000342556.6:c.1288G>T | ENSP00000341491.6:p.Gly430Trp | |
| NM_005967.3:c.1480G>T | NP_005958.1:p.Gly494Trp | |
| XM_005268894.2:c.1288G>T | XP_005268951.1:p.Gly430Trp | |
| NM_001330305.1:c.1288G>T | NP_001317234.1:p.Gly430Trp | |
| NM_005967.4:c.1480G>T MANE Select | NP_005958.1:p.Gly494Trp | |
| NM_001330305.2:c.1288G>T | NP_001317234.1:p.Gly430Trp |