Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908302A>T , CM000663.2:g.147908302A>T | GRCh38 |
| NC_000001.10:g.147380429A>T , CM000663.1:g.147380429A>T | GRCh37 |
| NC_000001.9:g.145847053A>T | NCBI36 |
| NG_016242.1:g.10484A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.347A>T MANE Select | ENSP00000358238.1:p.Gln116Leu | |
| ENST00000369235.1:c.347A>T | ENSP00000358238.1:p.Gln116Leu | |
| NM_005267.4:c.347A>T | NP_005258.2:p.Gln116Leu | |
| XM_011509416.1:c.347A>T | XP_011507718.1:p.Gln116Leu | |
| XM_011509417.1:c.347A>T | XP_011507719.1:p.Gln116Leu | |
| XM_011509417.2:c.347A>T | XP_011507719.1:p.Gln116Leu | |
| XR_002956281.1:n.1262A>T | ||
| NM_005267.5:c.347A>T MANE Select | NP_005258.2:p.Gln116Leu |