Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965556T= , CM000663.2:g.11965556T= | GRCh38 |
| NC_000001.10:g.12025613T= , CM000663.1:g.12025613T= | GRCh37 |
| NC_000001.9:g.11948200T= | NCBI36 |
| NG_008159.1:g.35868T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1547T= MANE Select | ENSP00000196061.4:p.Leu516= | |
| ENST00000196061.4:c.1547T= | ENSP00000196061.4:p.Leu516= | |
| ENST00000470133.1:n.161T= | ||
| ENST00000491536.5:n.175T= | ||
| NM_000302.3:c.1547T= | NP_000293.2:p.Leu516= | |
| NM_001316320.1:c.1688T= | NP_001303249.1:p.Leu563= | |
| XM_011541594.1:c.1628T= | XP_011539896.1:p.Leu543= | |
| XM_024447707.1:c.881T= | XP_024303475.1:p.Leu294= | |
| NM_000302.4:c.1547T= MANE Select | NP_000293.2:p.Leu516= | |
| NM_001316320.2:c.1688T= | NP_001303249.1:p.Leu563= |