Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32985852C>T , CM000682.2:g.32985852C>T | GRCh38 |
| NC_000020.10:g.31573658C>T , CM000682.1:g.31573658C>T | GRCh37 |
| NC_000020.9:g.31037319C>T | NCBI36 |
| NG_054760.1:g.23598G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080675.4:c.781G>A MANE Select | NP_542406.2:p.Val261Met |
| ENST00000356173.8:c.781G>A MANE Select | ENSP00000348496.3:p.Val261Met |
| NM_080675.3:c.781G>A | NP_542406.2:p.Val261Met |
| ENST00000356173.7:c.781G>A | ENSP00000348496.3:p.Val261Met |
| ENST00000375523.7:c.706G>A | ENSP00000364673.3:p.Val236Met |
| XM_011528573.1:c.850G>A | XP_011526875.1:p.Val284Met |
| XM_011528574.1:c.706G>A | XP_011526876.1:p.Val236Met |
| XM_011528575.1:c.511G>A | XP_011526877.1:p.Val171Met |