Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.68540787A>G , CM000671.2:g.68540787A>G | GRCh38 |
| NC_000009.11:g.71155703A>G , CM000671.1:g.71155703A>G | GRCh37 |
| NC_000009.10:g.70345523A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153237.2:c.28T>C MANE Select | NP_694969.1:p.Cys10Arg |
| ENST00000377311.4:c.28T>C MANE Select | ENSP00000366528.4:p.Cys10Arg |
| NM_153237.1:c.28T>C | NP_694969.1:p.Cys10Arg |
| ENST00000377311.3:c.28T>C | ENSP00000366528.3:p.Cys10Arg |
| XM_011518330.1:c.28T>C | XP_011516632.1:p.Cys10Arg |