Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226696T>G , CM000673.2:g.5226696T>G | GRCh38 |
| NC_000011.9:g.5247926T>G , CM000673.1:g.5247926T>G | GRCh37 |
| NC_000011.8:g.5204502T>G | NCBI36 |
| NG_000007.3:g.70920A>C | |
| NG_059281.1:g.5376A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.196A>C MANE Select | NP_000509.1:p.Lys66Gln |
| ENST00000335295.4:c.196A>C MANE Select | ENSP00000333994.3:p.Lys66Gln |
| NM_000518.4:c.196A>C | NP_000509.1:p.Lys66Gln |
| ENST00000380315.2:c.196A>C | ENSP00000369671.2:p.Lys66Gln |
| ENST00000475226.1:n.128A>C | |
| ENST00000485743.1:n.247A>C | |
| ENST00000633227.1:c.*12A>C | ENSP00000488004.1:n.*12A>C |
| ENST00000647020.1:c.196A>C | ENSP00000494175.1:p.Lys66Gln |