Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980682G>A , CM000674.2:g.48980682G>A | GRCh38 |
| NC_000012.11:g.49374465G>A , CM000674.1:g.49374465G>A | GRCh37 |
| NC_000012.10:g.47660732G>A | NCBI36 |
| NG_033141.1:g.7230G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.617G>A MANE Select | NP_005421.1:p.Gly206Asp |
| ENST00000293549.4:c.617G>A MANE Select | ENSP00000293549.3:p.Gly206Asp |
| NM_005430.3:c.617G>A | NP_005421.1:p.Gly206Asp |
| ENST00000293549.3:c.617G>A | ENSP00000293549.3:p.Gly206Asp |
| ENST00000613114.4:c.617G>A | ENSP00000481240.1:p.Gly206Asp |