Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1334174T= , CM000663.2:g.1334174T= | GRCh38 |
| NC_000001.10:g.1269554T= , CM000663.1:g.1269554T= | GRCh37 |
| NC_000001.9:g.1259417T= | NCBI36 |
| NG_008048.1:g.19939A= | |
| NG_008048.2:g.19939A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152228.3:c.2269T= MANE Select | NP_689414.2:p.Cys757= |
| ENST00000339381.6:c.2269T= MANE Select | ENSP00000344411.5:p.Cys757= |
| ENST00000339381.5:c.2269T= | ENSP00000344411.5:p.Cys757= |
| XM_011542239.1:c.2266T= | XP_011540541.1:p.Cys756= |
| XM_017002435.1:c.2395T= | XP_016857924.1:p.Cys799= |
| XM_017002436.1:c.2392T= | XP_016857925.1:p.Cys798= |