Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570084A>C , CM000664.2:g.149570084A>C | GRCh38 |
| NC_000002.11:g.150426598A>C , CM000664.1:g.150426598A>C | GRCh37 |
| NC_000002.10:g.150134844A>C | NCBI36 |
| NG_009189.1:g.22733T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.781T>G MANE Select | ENSP00000301920.5:p.Cys261Gly | |
| ENST00000303319.9:c.781T>G | ENSP00000301920.5:p.Cys261Gly | |
| ENST00000422782.2:c.883T>G | ENSP00000408331.2:p.Cys295Gly | |
| ENST00000428879.5:c.781T>G | ENSP00000389060.1:p.Cys261Gly | |
| NM_015702.2:c.781T>G | NP_056517.1:p.Cys261Gly | |
| NM_015702.3:c.781T>G MANE Select | NP_056517.1:p.Cys261Gly |