Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030457T>C , CM000666.2:g.43030457T>C | GRCh38 |
| NC_000004.11:g.43032474T>C , CM000666.1:g.43032474T>C | GRCh37 |
| NC_000004.10:g.42727231T>C | NCBI36 |
| NG_027718.1:g.142192T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.790T>C MANE Select | NP_001073945.1:p.Cys264Arg |
| ENST00000399770.3:c.790T>C MANE Select | ENSP00000382670.2:p.Cys264Arg |
| NM_001080476.2:c.790T>C | NP_001073945.1:p.Cys264Arg |
| ENST00000399770.2:c.790T>C | ENSP00000382670.2:p.Cys264Arg |
| XM_011513691.1:c.427T>C | XP_011511993.1:p.Cys143Arg |