Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119186123A>G , CM000666.2:g.119186123A>G | GRCh38 |
| NC_000004.11:g.120107278A>G , CM000666.1:g.120107278A>G | GRCh37 |
| NC_000004.10:g.120326726A>G | NCBI36 |
| NG_029747.1:g.55340A>G , LRG_396:g.55340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.718A>G MANE Select | ENSP00000306997.6:p.Ile240Val | |
| ENST00000307128.5:c.718A>G | ENSP00000306997.5:p.Ile240Val | |
| NM_016599.4:c.718A>G , LRG_396t1:c.718A>G | NP_057683.1:p.Ile240Val | |
| NM_016599.5:c.718A>G MANE Select | NP_057683.1:p.Ile240Val |