Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904975G= , CM000685.2:g.154904975G= | GRCh38 |
| NC_000023.10:g.154133250G= , CM000685.1:g.154133250G= | GRCh37 |
| NC_000023.9:g.153786444G= | NCBI36 |
| NG_011403.1:g.122749C= | |
| NG_011403.2:g.122749C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5422C= MANE Select | NP_000123.1:p.Leu1808= |
| ENST00000360256.9:c.5422C= MANE Select | ENSP00000353393.4:p.Leu1808= |
| NM_000132.3:c.5422C= | NP_000123.1:p.Leu1808= |
| ENST00000360256.8:c.5422C= | ENSP00000353393.4:p.Leu1808= |
| XM_011531126.1:c.5317C= | XP_011529428.1:p.Leu1773= |