Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615638C>T , CM000668.2:g.151615638C>T | GRCh38 |
| NC_000006.11:g.151936773C>T , CM000668.1:g.151936773C>T | GRCh37 |
| NC_000006.10:g.151978466C>T | NCBI36 |
| NG_021198.1:g.126599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1906C>T MANE Select | ENSP00000239374.6:p.Leu636= | |
| ENST00000239374.7:c.1906C>T | ENSP00000239374.6:p.Leu636= | |
| NM_025059.3:c.1906C>T | NP_079335.2:p.Leu636= | |
| XM_011536147.1:c.1924C>T | XP_011534449.1:p.Leu642= | |
| XM_011536148.1:c.1723C>T | XP_011534450.1:p.Leu575= | |
| XM_011536147.2:c.1924C>T | XP_011534449.1:p.Leu642= | |
| XM_011536148.2:c.1723C>T | XP_011534450.1:p.Leu575= | |
| XR_001743865.1:n.129+1083G>A | ||
| NM_025059.4:c.1906C>T MANE Select | NP_079335.2:p.Leu636= |