Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022620C>T , CM000663.2:g.17022620C>T | GRCh38 |
| NC_000001.10:g.17349115C>T , CM000663.1:g.17349115C>T | GRCh37 |
| NC_000001.9:g.17221702C>T | NCBI36 |
| NG_012340.1:g.36551G>A , LRG_316:g.36551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.582G>A | ENSP00000481376.2:p.Arg194= | |
| ENST00000491274.6:c.711G>A | ENSP00000480482.2:p.Arg237= | |
| ENST00000375499.8:c.753G>A MANE Select | ENSP00000364649.3:p.Arg251= | |
| ENST00000375499.7:c.753G>A | ENSP00000364649.3:p.Arg251= | |
| ENST00000475049.5:n.178G>A | ||
| ENST00000485092.5:n.417G>A | ||
| ENST00000485515.5:n.687G>A | ||
| NM_003000.2:c.753G>A , LRG_316t1:c.753G>A | NP_002991.2:p.Arg251= | |
| NM_003000.3:c.753G>A MANE Select | NP_002991.2:p.Arg251= |