Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226762C>G , CM000673.2:g.5226762C>G | GRCh38 |
| NC_000011.9:g.5247992C>G , CM000673.1:g.5247992C>G | GRCh37 |
| NC_000011.8:g.5204568C>G | NCBI36 |
| NG_000007.3:g.70854G>C | |
| NG_059281.1:g.5310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.130G>C | ENSP00000494175.1:p.Glu44Gln | |
| ENST00000335295.4:c.130G>C MANE Select | ENSP00000333994.3:p.Glu44Gln | |
| ENST00000380315.2:c.130G>C | ENSP00000369671.2:p.Glu44Gln | |
| ENST00000475226.1:n.62G>C | ||
| ENST00000485743.1:n.181G>C | ||
| ENST00000633227.1:c.114G>C | ENSP00000488004.1:p.Leu38Phe | |
| NM_000518.4:c.130G>C | NP_000509.1:p.Glu44Gln | |
| NM_000518.5:c.130G>C MANE Select | NP_000509.1:p.Glu44Gln |