Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733298G>A , CM000684.2:g.37733298G>A | GRCh38 |
| NC_000022.10:g.38129305G>A , CM000684.1:g.38129305G>A | GRCh37 |
| NC_000022.9:g.36459251G>A | NCBI36 |
| NG_012857.1:g.41311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3948G>A MANE Select | ENSP00000496394.1:p.Arg1316= | |
| ENST00000344404.10:c.*3431G>A | ENSP00000340312.6:n.*3431G>A | |
| ENST00000406386.7:c.3948G>A | ENSP00000384312.3:p.Arg1316= | |
| NM_001039141.2:c.3948G>A | NP_001034230.1:p.Arg1316= | |
| XM_011530646.1:c.512-2939C>T | XP_011528948.1:n.512-2939C>T | |
| NM_001039141.3:c.3948G>A MANE Select | NP_001034230.1:p.Arg1316= |