Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10474992A>T , CM000663.2:g.10474992A>T | GRCh38 |
| NC_000001.10:g.10535049A>T , CM000663.1:g.10535049A>T | GRCh37 |
| NC_000001.9:g.10457636A>T | NCBI36 |
| NG_008340.1:g.5047A>T | |
| NG_029098.1:g.2565T>A | |
| NG_008340.2:g.5047A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004565.3:c.26A>T MANE Select | NP_004556.1:p.Gln9Leu |
| ENST00000356607.9:c.26A>T MANE Select | ENSP00000349016.4:p.Gln9Leu |
| NM_004565.2:c.26A>T | NP_004556.1:p.Gln9Leu |
| ENST00000356607.8:c.26A>T | ENSP00000349016.4:p.Gln9Leu |
| ENST00000472851.1:n.293+2412A>T | |
| ENST00000491661.2:c.11A>T | ENSP00000465473.1:p.Gln4Leu |
| XM_011541580.1:c.26A>T | XP_011539882.1:p.Gln9Leu |