Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31476208G>A , CM000680.2:g.31476208G>A | GRCh38 |
| NC_000018.9:g.29056171G>A , CM000680.1:g.29056171G>A | GRCh37 |
| NC_000018.8:g.27310169G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001944.3:c.2948G>A MANE Select | NP_001935.2:p.Arg983Gln |
| ENST00000257189.5:c.2948G>A MANE Select | ENSP00000257189.4:p.Arg983Gln |
| NM_001944.2:c.2948G>A | NP_001935.2:p.Arg983Gln |
| ENST00000257189.4:c.2948G>A | ENSP00000257189.4:p.Arg983Gln |
| XM_011525850.1:c.2945G>A | XP_011524152.1:p.Arg982Gln |
| XM_011525850.2:c.2945G>A | XP_011524152.1:p.Arg982Gln |