Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226654C>G , CM000673.2:g.5226654C>G | GRCh38 |
| NC_000011.9:g.5247884C>G , CM000673.1:g.5247884C>G | GRCh37 |
| NC_000011.8:g.5204460C>G | NCBI36 |
| NG_000007.3:g.70962G>C | |
| NG_059281.1:g.5418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.238G>C | ENSP00000494175.1:p.Asp80His | |
| ENST00000335295.4:c.238G>C MANE Select | ENSP00000333994.3:p.Asp80His | |
| ENST00000380315.2:c.238G>C | ENSP00000369671.2:p.Asp80His | |
| ENST00000475226.1:n.170G>C | ||
| ENST00000485743.1:n.289G>C | ||
| ENST00000633227.1:c.*54G>C | ENSP00000488004.1:n.*54G>C | |
| NM_000518.4:c.238G>C | NP_000509.1:p.Asp80His | |
| NM_000518.5:c.238G>C MANE Select | NP_000509.1:p.Asp80His |