Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119750831G>A , CM000663.2:g.119750831G>A | GRCh38 |
| NC_000001.10:g.120293454G>A , CM000663.1:g.120293454G>A | GRCh37 |
| NC_000001.9:g.120094977G>A | NCBI36 |
| NG_013348.1:g.23102C>T , LRG_447:g.23102C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.1498C>T MANE Select | NP_005509.1:p.Arg500Cys |
| ENST00000369406.8:c.1498C>T MANE Select | ENSP00000358414.3:p.Arg500Cys |
| NM_001166107.1:c.1372C>T , LRG_447t2:c.1372C>T | NP_001159579.1:p.Arg458Cys |
| NM_005518.3:c.1498C>T , LRG_447t1:c.1498C>T | NP_005509.1:p.Arg500Cys |
| ENST00000369406.7:c.1498C>T | ENSP00000358414.3:p.Arg500Cys |
| ENST00000544913.2:c.1372C>T | ENSP00000439495.2:p.Arg458Cys |
| XM_011541313.1:c.1333C>T | XP_011539615.1:p.Arg445Cys |
| XM_011541313.2:c.1333C>T | XP_011539615.1:p.Arg445Cys |