Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109251200G>A , CM000663.2:g.109251200G>A | GRCh38 |
| NC_000001.10:g.109793822G>A , CM000663.1:g.109793822G>A | GRCh37 |
| NC_000001.9:g.109595345G>A | NCBI36 |
| NG_052669.1:g.6496G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001408.3:c.1121G>A MANE Select | NP_001399.1:p.Arg374Gln |
| ENST00000271332.4:c.1121G>A MANE Select | ENSP00000271332.3:p.Arg374Gln |
| NM_001408.2:c.1121G>A | NP_001399.1:p.Arg374Gln |
| ENST00000271332.3:c.1121G>A | ENSP00000271332.3:p.Arg374Gln |
| XM_005270580.3:c.1121G>A | XP_005270637.1:p.Arg374Gln |