Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119186143A>G , CM000666.2:g.119186143A>G | GRCh38 |
| NC_000004.11:g.120107298A>G , CM000666.1:g.120107298A>G | GRCh37 |
| NC_000004.10:g.120326746A>G | NCBI36 |
| NG_029747.1:g.55360A>G , LRG_396:g.55360A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016599.5:c.738A>G MANE Select | NP_057683.1:p.Ile246Met |
| ENST00000307128.6:c.738A>G MANE Select | ENSP00000306997.6:p.Ile246Met |
| NM_016599.4:c.738A>G , LRG_396t1:c.738A>G | NP_057683.1:p.Ile246Met |
| ENST00000307128.5:c.738A>G | ENSP00000306997.5:p.Ile246Met |