Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788313A>G , CM000681.2:g.18788313A>G | GRCh38 |
| NC_000019.9:g.18899122A>G , CM000681.1:g.18899122A>G | GRCh37 |
| NC_000019.8:g.18760122A>G | NCBI36 |
| NG_007070.1:g.7993T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.874T>C MANE Select | NP_000086.2:p.Cys292Arg |
| ENST00000222271.7:c.874T>C MANE Select | ENSP00000222271.2:p.Cys292Arg |
| NM_000095.2:c.874T>C | NP_000086.2:p.Cys292Arg |
| ENST00000222271.6:c.874T>C | ENSP00000222271.2:p.Cys292Arg |
| ENST00000425807.1:c.715T>C | ENSP00000403792.1:p.Cys239Arg |
| ENST00000542601.6:c.775T>C | ENSP00000439156.2:p.Cys259Arg |