Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226653T>G , CM000673.2:g.5226653T>G | GRCh38 |
| NC_000011.9:g.5247883T>G , CM000673.1:g.5247883T>G | GRCh37 |
| NC_000011.8:g.5204459T>G | NCBI36 |
| NG_000007.3:g.70963A>C | |
| NG_059281.1:g.5419A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.239A>C MANE Select | NP_000509.1:p.Asp80Ala |
| ENST00000335295.4:c.239A>C MANE Select | ENSP00000333994.3:p.Asp80Ala |
| NM_000518.4:c.239A>C | NP_000509.1:p.Asp80Ala |
| ENST00000380315.2:c.239A>C | ENSP00000369671.2:p.Asp80Ala |
| ENST00000475226.1:n.171A>C | |
| ENST00000485743.1:n.290A>C | |
| ENST00000633227.1:c.*55A>C | ENSP00000488004.1:n.*55A>C |
| ENST00000647020.1:c.239A>C | ENSP00000494175.1:p.Asp80Ala |