Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55638685A>G , CM000673.2:g.55638685A>G | GRCh38 |
| NC_000011.9:g.55406161A>G , CM000673.1:g.55406161A>G | GRCh37 |
| NC_000011.8:g.55162737A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000641760.1:c.328A>G MANE Select | ENSP00000493384.1:p.Ile110Val |
| NM_001004124.2:c.328A>G | NP_001004124.1:p.Ile110Val |
| ENST00000314612.2:c.328A>G | ENSP00000324831.1:p.Ile110Val |