Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845673G>A , CM000672.2:g.99845673G>A | GRCh38 |
| NC_000010.10:g.101605430G>A , CM000672.1:g.101605430G>A | GRCh37 |
| NC_000010.9:g.101595420G>A | NCBI36 |
| NG_011798.1:g.67968G>A | |
| NG_011798.2:g.68076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4037G>A MANE Select | ENSP00000497274.1:p.Cys1346Tyr | |
| ENST00000649459.1:n.385G>A | ||
| ENST00000370449.8:c.4037G>A | ENSP00000359478.4:p.Cys1346Tyr | |
| NM_000392.4:c.4037G>A | NP_000383.1:p.Cys1346Tyr | |
| XM_006717630.2:c.3341G>A | XP_006717693.1:p.Cys1114Tyr | |
| XR_945604.1:n.4177-10G>A | ||
| XR_945605.1:n.4101G>A | ||
| NM_000392.5:c.4037G>A MANE Select | NP_000383.2:p.Cys1346Tyr | |
| XM_006717630.3:c.3341G>A | XP_006717693.1:p.Cys1114Tyr | |
| XR_945604.3:n.4231-10G>A | ||
| XR_945605.3:n.4153G>A |