Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119158119G>A , CM000666.2:g.119158119G>A | GRCh38 |
| NC_000004.11:g.120079274G>A , CM000666.1:g.120079274G>A | GRCh37 |
| NC_000004.10:g.120298722G>A | NCBI36 |
| NG_029747.1:g.27336G>A , LRG_396:g.27336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.344G>A MANE Select | ENSP00000306997.6:p.Arg115Gln | |
| ENST00000307128.5:c.344G>A | ENSP00000306997.5:p.Arg115Gln | |
| NM_016599.4:c.344G>A , LRG_396t1:c.344G>A | NP_057683.1:p.Arg115Gln | |
| XM_006714234.2:c.344G>A | XP_006714297.1:p.Arg115Gln | |
| XM_006714234.4:c.344G>A | XP_006714297.1:p.Arg115Gln | |
| NM_016599.5:c.344G>A MANE Select | NP_057683.1:p.Arg115Gln |