Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408435C>A , CM000665.2:g.190408435C>A | GRCh38 |
| NC_000003.11:g.190126224C>A , CM000665.1:g.190126224C>A | GRCh37 |
| NC_000003.10:g.191608918C>A | NCBI36 |
| NG_008149.1:g.25384C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.504C>A MANE Select | ENSP00000264734.3:p.Leu168= | |
| ENST00000456423.2:c.115-1468C>A | ENSP00000414136.2:n.115-1468C>A | |
| ENST00000264734.2:c.714C>A | ENSP00000264734.2:p.Leu238= | |
| ENST00000456423.1:c.325-1468C>A | ENSP00000414136.1:n.325-1468C>A | |
| NM_006580.3:c.714C>A | NP_006571.1:p.Leu238= | |
| NM_001378492.1:c.504C>A | NP_001365421.1:p.Leu168= | |
| NM_001378493.1:c.504C>A | NP_001365422.1:p.Leu168= | |
| NM_006580.4:c.504C>A MANE Select | NP_006571.2:p.Leu168= |