Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51346926G>A , CM000681.2:g.51346926G>A | GRCh38 |
| NC_000019.9:g.51850180G>A , CM000681.1:g.51850180G>A | GRCh37 |
| NC_000019.8:g.56541992G>A | NCBI36 |
| NG_007115.1:g.24493C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.571C>T MANE Select | NP_001976.1:p.Arg191Cys |
| ENST00000309244.9:c.571C>T MANE Select | ENSP00000311930.3:p.Arg191Cys |
| NM_001014763.1:c.844C>T | NP_001014763.1:p.Arg282Cys |
| NM_001985.2:c.571C>T | NP_001976.1:p.Arg191Cys |
| ENST00000309244.8:c.571C>T | ENSP00000311930.3:p.Arg191Cys |
| ENST00000354232.8:c.844C>T | ENSP00000346173.3:p.Arg282Cys |
| ENST00000594361.1:n.1605C>T | |
| ENST00000596253.1:c.412C>T | ENSP00000469628.1:p.Arg138Cys |
| XM_024451418.1:c.460C>T | XP_024307186.1:p.Arg154Cys |