Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965578G>T , CM000663.2:g.11965578G>T | GRCh38 |
| NC_000001.10:g.12025635G>T , CM000663.1:g.12025635G>T | GRCh37 |
| NC_000001.9:g.11948222G>T | NCBI36 |
| NG_008159.1:g.35890G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1569G>T MANE Select | ENSP00000196061.4:p.Val523= | |
| ENST00000196061.4:c.1569G>T | ENSP00000196061.4:p.Val523= | |
| ENST00000470133.1:n.183G>T | ||
| ENST00000491536.5:n.197G>T | ||
| NM_000302.3:c.1569G>T | NP_000293.2:p.Val523= | |
| NM_001316320.1:c.1710G>T | NP_001303249.1:p.Val570= | |
| XM_011541594.1:c.1650G>T | XP_011539896.1:p.Val550= | |
| XM_024447707.1:c.903G>T | XP_024303475.1:p.Val301= | |
| NM_000302.4:c.1569G>T MANE Select | NP_000293.2:p.Val523= | |
| NM_001316320.2:c.1710G>T | NP_001303249.1:p.Val570= |