Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787575A>G , CM000681.2:g.18787575A>G | GRCh38 |
| NC_000019.9:g.18898384A>G , CM000681.1:g.18898384A>G | GRCh37 |
| NC_000019.8:g.18759384A>G | NCBI36 |
| NG_007070.1:g.8731T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1051T>C MANE Select | NP_000086.2:p.Cys351Arg |
| ENST00000222271.7:c.1051T>C MANE Select | ENSP00000222271.2:p.Cys351Arg |
| NM_000095.2:c.1051T>C | NP_000086.2:p.Cys351Arg |
| ENST00000222271.6:c.1051T>C | ENSP00000222271.2:p.Cys351Arg |
| ENST00000425807.1:c.892T>C | ENSP00000403792.1:p.Cys298Arg |
| ENST00000542601.6:c.952T>C | ENSP00000439156.2:p.Cys318Arg |