Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022615C= , CM000663.2:g.17022615C= | GRCh38 |
| NC_000001.10:g.17349110C= , CM000663.1:g.17349110C= | GRCh37 |
| NC_000001.9:g.17221697C= | NCBI36 |
| NG_012340.1:g.36556G= , LRG_316:g.36556G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.587G= | ENSP00000481376.2:p.Cys196= | |
| ENST00000491274.6:c.716G= | ENSP00000480482.2:p.Cys239= | |
| ENST00000375499.8:c.758G= MANE Select | ENSP00000364649.3:p.Cys253= | |
| ENST00000375499.7:c.758G= | ENSP00000364649.3:p.Cys253= | |
| ENST00000475049.5:n.183G= | ||
| ENST00000485092.5:n.422G= | ||
| ENST00000485515.5:n.692G= | ||
| NM_003000.2:c.758G= , LRG_316t1:c.758G= | NP_002991.2:p.Cys253= | |
| NM_003000.3:c.758G= MANE Select | NP_002991.2:p.Cys253= |