Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226822A>G , CM000673.2:g.5226822A>G | GRCh38 |
| NC_000011.9:g.5248052A>G , CM000673.1:g.5248052A>G | GRCh37 |
| NC_000011.8:g.5204628A>G | NCBI36 |
| NG_000007.3:g.70794T>C | |
| NG_059281.1:g.5250T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.93-23T>C MANE Select | NP_000509.1:n.93-23T>C |
| ENST00000335295.4:c.93-23T>C MANE Select | ENSP00000333994.3:n.93-23T>C |
| NM_000518.4:c.93-23T>C | NP_000509.1:n.93-23T>C |
| ENST00000380315.2:c.93-23T>C | ENSP00000369671.2:n.93-23T>C |
| ENST00000475226.1:n.2T>C | |
| ENST00000485743.1:n.144-23T>C | |
| ENST00000633227.1:c.77-23T>C | ENSP00000488004.1:n.77-23T>C |
| ENST00000647020.1:c.93-23T>C | ENSP00000494175.1:n.93-23T>C |