Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80284030A>G , CM000672.2:g.80284030A>G | GRCh38 |
| NC_000010.10:g.82043786A>G , CM000672.1:g.82043786A>G | GRCh37 |
| NC_000010.9:g.82033766A>G | NCBI36 |
| NG_008083.1:g.10649T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.178T>C MANE Select | NP_000420.1:p.Cys60Arg |
| ENST00000372213.8:c.178T>C MANE Select | ENSP00000361287.3:p.Cys60Arg |
| NM_000429.2:c.178T>C | NP_000420.1:p.Cys60Arg |
| ENST00000372213.7:c.178T>C | ENSP00000361287.3:p.Cys60Arg |
| ENST00000455001.1:c.103+1482T>C | ENSP00000414961.1:n.103+1482T>C |
| XM_005269842.3:c.178T>C | XP_005269899.1:p.Cys60Arg |
| XM_005269843.3:c.169+1482T>C | XP_005269900.1:n.169+1482T>C |