Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21815681A>T , CM000680.2:g.21815681A>T | GRCh38 |
| NC_000018.9:g.19395642A>T , CM000680.1:g.19395642A>T | GRCh37 |
| NC_000018.8:g.17649640A>T | NCBI36 |
| NG_033272.2:g.115725A>T , LRG_759:g.115725A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020774.4:c.1545A>T MANE Select | NP_065825.1:p.Val515= |
| ENST00000261537.7:c.1545A>T MANE Select | ENSP00000261537.6:p.Val515= |
| NM_020774.3:c.1545A>T , LRG_759t1:c.1545A>T | NP_065825.1:p.Val515= |
| ENST00000261537.6:c.1545A>T | ENSP00000261537.6:p.Val515= |
| ENST00000577749.5:n.530A>T | |
| ENST00000578260.1:n.348A>T | |
| ENST00000578646.5:n.1522A>T | |
| XM_011526098.1:c.75A>T | XP_011524400.1:p.Val25= |
| XM_017025873.1:c.1029A>T | XP_016881362.1:p.Val343= |
| XR_935234.1:n.2665A>T | |
| XR_935235.1:n.2588A>T |