Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891508G>A , CM000664.2:g.72891508G>A | GRCh38 |
| NC_000002.11:g.73118637G>A , CM000664.1:g.73118637G>A | GRCh37 |
| NC_000002.10:g.72972145G>A | NCBI36 |
| NG_008234.1:g.9126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.757G>A MANE Select | ENSP00000234454.5:p.Gly253Arg | |
| ENST00000234454.5:c.757G>A | ENSP00000234454.5:p.Gly253Arg | |
| ENST00000498749.1:n.702G>A | ||
| NM_003124.4:c.757G>A | NP_003115.1:p.Gly253Arg | |
| NM_003124.5:c.757G>A MANE Select | NP_003115.1:p.Gly253Arg |