Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965533A= , CM000663.2:g.11965533A= | GRCh38 |
| NC_000001.10:g.12025590A= , CM000663.1:g.12025590A= | GRCh37 |
| NC_000001.9:g.11948177A= | NCBI36 |
| NG_008159.1:g.35845A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1524A= MANE Select | ENSP00000196061.4:p.Leu508= | |
| ENST00000196061.4:c.1524A= | ENSP00000196061.4:p.Leu508= | |
| ENST00000470133.1:n.138A= | ||
| ENST00000491536.5:n.152A= | ||
| NM_000302.3:c.1524A= | NP_000293.2:p.Leu508= | |
| NM_001316320.1:c.1665A= | NP_001303249.1:p.Leu555= | |
| XM_011541594.1:c.1605A= | XP_011539896.1:p.Leu535= | |
| XM_024447707.1:c.858A= | XP_024303475.1:p.Leu286= | |
| NM_000302.4:c.1524A= MANE Select | NP_000293.2:p.Leu508= | |
| NM_001316320.2:c.1665A= | NP_001303249.1:p.Leu555= |