Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999220A>G , CM000663.2:g.54999220A>G | GRCh38 |
| NC_000001.10:g.55464893A>G , CM000663.1:g.55464893A>G | GRCh37 |
| NC_000001.9:g.55237481A>G | NCBI36 |
| NG_008965.1:g.5277A>G | |
| NG_008965.2:g.5288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.34A>G MANE Select | ENSP00000498282.1:p.Ile12Val | |
| ENST00000371265.4:c.34A>G | ENSP00000360312.4:p.Ile12Val | |
| NM_057176.2:c.34A>G | NP_476517.1:p.Ile12Val | |
| NM_057176.3:c.34A>G MANE Select | NP_476517.1:p.Ile12Val |