Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12276695G>A , CM000663.2:g.12276695G>A | GRCh38 |
| NC_000001.10:g.12336752G>A , CM000663.1:g.12336752G>A | GRCh37 |
| NC_000001.9:g.12259339G>A | NCBI36 |
| NG_056877.1:g.51657G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.3107G>A MANE Select | NP_056193.2:p.Arg1036Gln |
| ENST00000620676.6:c.3107G>A MANE Select | ENSP00000478104.1:p.Arg1036Gln |
| NM_015378.3:c.3107G>A | NP_056193.2:p.Arg1036Gln |
| NM_018156.3:c.3107G>A | NP_060626.2:p.Arg1036Gln |
| NM_018156.4:c.3107G>A | NP_060626.2:p.Arg1036Gln |
| ENST00000613099.4:c.3107G>A | ENSP00000482233.1:p.Arg1036Gln |
| ENST00000620676.4:c.3107G>A | ENSP00000478104.1:p.Arg1036Gln |