Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712585T>C , CM000681.2:g.6712585T>C | GRCh38 |
| NC_000019.9:g.6712596T>C , CM000681.1:g.6712596T>C | GRCh37 |
| NC_000019.8:g.6663596T>C | NCBI36 |
| NG_009557.1:g.13067A>G , LRG_27:g.13067A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1042A>G MANE Select | NP_000055.2:p.Ile348Val |
| ENST00000245907.11:c.1042A>G MANE Select | ENSP00000245907.4:p.Ile348Val |
| NM_000064.3:c.1042A>G | NP_000055.2:p.Ile348Val |
| ENST00000245907.10:c.1042A>G | ENSP00000245907.4:p.Ile348Val |
| ENST00000594270.5:n.145A>G | |
| ENST00000595577.1:n.546A>G | |
| ENST00000597442.5:n.292A>G | |
| ENST00000695652.1:c.919A>G | ENSP00000512083.1:p.Ile307Val |
| ENST00000695654.1:c.166A>G | ENSP00000512085.1:p.Ile56Val |
| ENST00000695692.1:n.406A>G |