Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46360664G= , CM000664.2:g.46360664G= | GRCh38 |
| NC_000002.11:g.46587803G= , CM000664.1:g.46587803G= | GRCh37 |
| NC_000002.10:g.46441307G= | NCBI36 |
| NG_016000.1:g.68263G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.481G= MANE Select | NP_001421.2:p.Asp161= |
| ENST00000263734.5:c.481G= MANE Select | ENSP00000263734.3:p.Asp161= |
| NM_001430.4:c.481G= | NP_001421.2:p.Asp161= |
| ENST00000263734.4:c.481G= | ENSP00000263734.3:p.Asp161= |
| ENST00000449347.5:c.481G= | ENSP00000406137.1:p.Asp161= |
| ENST00000463191.1:n.300G= | |
| XM_011532698.1:c.520G= | XP_011531000.1:p.Asp174= |
| XM_011532698.2:c.520G= | XP_011531000.1:p.Asp174= |