Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226593T>G , CM000673.2:g.5226593T>G | GRCh38 |
| NC_000011.9:g.5247823T>G , CM000673.1:g.5247823T>G | GRCh37 |
| NC_000011.8:g.5204399T>G | NCBI36 |
| NG_000007.3:g.71023A>C | |
| NG_059281.1:g.5479A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.299A>C | ENSP00000494175.1:p.Asp100Ala | |
| ENST00000335295.4:c.299A>C MANE Select | ENSP00000333994.3:p.Asp100Ala | |
| ENST00000475226.1:n.231A>C | ||
| ENST00000485743.1:n.350A>C | ||
| ENST00000633227.1:c.*115A>C | ENSP00000488004.1:n.*115A>C | |
| NM_000518.4:c.299A>C | NP_000509.1:p.Asp100Ala | |
| NM_000518.5:c.299A>C MANE Select | NP_000509.1:p.Asp100Ala |