Linked Data
gnomAD v4:
12-57094617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57094617G>A , CM000674.2:g.57094617G>A | GRCh38 |
| NC_000012.11:g.57488400G>A , CM000674.1:g.57488400G>A | GRCh37 |
| NC_000012.10:g.55774667G>A | NCBI36 |
| NG_021272.1:g.21797C>T | |
| NG_021272.2:g.42523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300131.8:c.1474G>A MANE Select | ENSP00000300131.3:p.Glu492Lys | |
| ENST00000300131.7:c.1474G>A | ENSP00000300131.3:p.Glu492Lys | |
| ENST00000342556.6:c.1282G>A | ENSP00000341491.6:p.Glu428Lys | |
| NM_005967.3:c.1474G>A | NP_005958.1:p.Glu492Lys | |
| XM_005268894.2:c.1282G>A | XP_005268951.1:p.Glu428Lys | |
| NM_001330305.1:c.1282G>A | NP_001317234.1:p.Glu428Lys | |
| NM_005967.4:c.1474G>A MANE Select | NP_005958.1:p.Glu492Lys | |
| NM_001330305.2:c.1282G>A | NP_001317234.1:p.Glu428Lys |