Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232592G= , CM000667.2:g.173232592G= | GRCh38 |
| NC_000005.9:g.172659595G= , CM000667.1:g.172659595G= | GRCh37 |
| NC_000005.8:g.172592201G= | NCBI36 |
| NG_013340.1:g.7721C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.952C= MANE Select | ENSP00000327758.4:p.Leu318= | |
| ENST00000329198.4:c.952C= | ENSP00000327758.4:p.Leu318= | |
| NM_001166175.1:c.*905C= | NP_001159647.1:n.*905C= | |
| NM_001166176.1:c.*751C= | NP_001159648.1:n.*751C= | |
| NM_004387.3:c.952C= | NP_004378.1:p.Leu318= | |
| NM_004387.4:c.952C= MANE Select | NP_004378.1:p.Leu318= | |
| NM_001166175.2:c.*905C= | NP_001159647.1:n.*905C= | |
| NM_001166176.2:c.*751C= | NP_001159648.1:n.*751C= |