Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110781304G>A , CM000672.2:g.110781304G>A | GRCh38 |
| NC_000010.10:g.112541062G>A , CM000672.1:g.112541062G>A | GRCh37 |
| NC_000010.9:g.112531052G>A | NCBI36 |
| NG_021177.1:g.141908G>A , LRG_382:g.141908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.695G>A MANE Select | ENSP00000358532.3:p.Gly232Asp | |
| ENST00000369519.3:c.695G>A | ENSP00000358532.3:p.Gly232Asp | |
| NM_001134363.2:c.695G>A | NP_001127835.2:p.Gly232Asp | |
| XM_011539697.1:c.311G>A | XP_011537999.1:p.Gly104Asp | |
| XM_017016103.2:c.530G>A | XP_016871592.1:p.Gly177Asp | |
| XM_017016104.2:c.311G>A | XP_016871593.1:p.Gly104Asp | |
| NM_001134363.3:c.695G>A MANE Select | NP_001127835.2:p.Gly232Asp |