Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571769G>T , CM000663.2:g.154571769G>T | GRCh38 |
| NC_000001.10:g.154544245G>T , CM000663.1:g.154544245G>T | GRCh37 |
| NC_000001.9:g.152810869G>T | NCBI36 |
| NG_008027.1:g.8989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.946G>T MANE Select | ENSP00000357461.3:p.Val316Leu | |
| ENST00000636034.1:c.946G>T | ENSP00000489703.1:p.Val316Leu | |
| ENST00000637900.1:c.952G>T | ENSP00000490474.1:p.Val318Leu | |
| ENST00000368476.3:c.946G>T | ENSP00000357461.3:p.Val316Leu | |
| NM_000748.2:c.946G>T | NP_000739.1:p.Val316Leu | |
| XM_017000180.2:c.436G>T | XP_016855669.1:p.Val146Leu | |
| XR_001736952.2:n.1198G>T | ||
| NM_000748.3:c.946G>T MANE Select | NP_000739.1:p.Val316Leu |