Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022621C>T , CM000663.2:g.17022621C>T | GRCh38 |
| NC_000001.10:g.17349116C>T , CM000663.1:g.17349116C>T | GRCh37 |
| NC_000001.9:g.17221703C>T | NCBI36 |
| NG_012340.1:g.36550G>A , LRG_316:g.36550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.581G>A | ENSP00000481376.2:p.Arg194Lys | |
| ENST00000491274.6:c.710G>A | ENSP00000480482.2:p.Arg237Lys | |
| ENST00000375499.8:c.752G>A MANE Select | ENSP00000364649.3:p.Arg251Lys | |
| ENST00000375499.7:c.752G>A | ENSP00000364649.3:p.Arg251Lys | |
| ENST00000475049.5:n.177G>A | ||
| ENST00000485092.5:n.416G>A | ||
| ENST00000485515.5:n.686G>A | ||
| NM_003000.2:c.752G>A , LRG_316t1:c.752G>A | NP_002991.2:p.Arg251Lys | |
| NM_003000.3:c.752G>A MANE Select | NP_002991.2:p.Arg251Lys |