Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1439570G>A , CM000663.2:g.1439570G>A | GRCh38 |
| NC_000001.10:g.1374950G>A , CM000663.1:g.1374950G>A | GRCh37 |
| NC_000001.9:g.1364813G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022834.5:c.1121G>A MANE Select | NP_073745.2:p.Gly374Glu |
| ENST00000476993.2:c.1121G>A MANE Select | ENSP00000417185.1:p.Gly374Glu |
| NM_022834.4:c.1121G>A | NP_073745.2:p.Gly374Glu |
| NM_199121.2:c.*531G>A | NP_954572.2:n.*531G>A |
| NM_199121.3:c.*531G>A | NP_954572.2:n.*531G>A |
| ENST00000338660.5:c.*531G>A | ENSP00000423404.1:n.*531G>A |
| ENST00000476993.1:c.1121G>A | ENSP00000417185.1:p.Gly374Glu |