Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17262194T= , CM000663.2:g.17262194T= | GRCh38 |
| NC_000001.10:g.17588689T= , CM000663.1:g.17588689T= | GRCh37 |
| NC_000001.9:g.17461276T= | NCBI36 |
| NG_052788.1:g.18116T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016233.2:c.335T= MANE Select | NP_057317.2:p.Leu112= |
| ENST00000375460.3:c.335T= MANE Select | ENSP00000364609.3:p.Leu112= |
| XM_006710684.2:c.221T= | XP_006710747.1:p.Leu74= |
| XM_011541571.1:c.221T= | XP_011539873.1:p.Leu74= |
| XM_011541571.2:c.221T= | XP_011539873.1:p.Leu74= |
| XM_011541572.1:c.335T= | XP_011539874.1:p.Leu112= |
| XM_011541572.2:c.335T= | XP_011539874.1:p.Leu112= |