Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33027694G>A , CM000683.2:g.33027694G>A | GRCh38 |
| NC_000021.8:g.34400002G>A , CM000683.1:g.34400002G>A | GRCh37 |
| NC_000021.7:g.33321872G>A | NCBI36 |
| NG_011834.1:g.6764G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005806.4:c.832G>A MANE Select | NP_005797.1:p.Gly278Ser |
| ENST00000382357.4:c.832G>A MANE Select | ENSP00000371794.3:p.Gly278Ser |
| NM_005806.3:c.832G>A | NP_005797.1:p.Gly278Ser |
| ENST00000333337.3:c.832G>A | ENSP00000331040.3:p.Gly278Ser |
| ENST00000382357.3:c.832G>A | ENSP00000371794.3:p.Gly278Ser |
| XM_005260908.1:c.832G>A | XP_005260965.1:p.Gly278Ser |