Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225695G>T , CM000673.2:g.5225695G>T | GRCh38 |
| NC_000011.9:g.5246925G>T , CM000673.1:g.5246925G>T | GRCh37 |
| NC_000011.8:g.5203501G>T | NCBI36 |
| NG_000007.3:g.71921C>A | |
| NG_059281.1:g.6377C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.347C>A MANE Select | NP_000509.1:p.Ala116Asp |
| ENST00000335295.4:c.347C>A MANE Select | ENSP00000333994.3:p.Ala116Asp |
| NM_000518.4:c.347C>A | NP_000509.1:p.Ala116Asp |
| ENST00000475226.1:n.279C>A | |
| ENST00000633227.1:c.*163C>A | ENSP00000488004.1:n.*163C>A |
| ENST00000647020.1:c.347C>A | ENSP00000494175.1:p.Ala116Asp |