Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100239771G>A , CM000676.2:g.100239771G>A | GRCh38 |
| NC_000014.8:g.100706108G>A , CM000676.1:g.100706108G>A | GRCh37 |
| NC_000014.7:g.99775861G>A | NCBI36 |
| NG_046908.1:g.6007G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.527G>A MANE Select | NP_003394.1:p.Gly176Asp |
| ENST00000262238.10:c.527G>A MANE Select | ENSP00000262238.4:p.Gly176Asp |
| NM_003403.4:c.527G>A | NP_003394.1:p.Gly176Asp |
| ENST00000262238.8:c.527G>A | ENSP00000262238.4:p.Gly176Asp |
| ENST00000553625.5:c.18G>A | |
| ENST00000554804.1:c.13G>A |