Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226521G>A , CM000673.2:g.5226521G>A | GRCh38 |
| NC_000011.9:g.5247751G>A , CM000673.1:g.5247751G>A | GRCh37 |
| NC_000011.8:g.5204327G>A | NCBI36 |
| NG_000007.3:g.71095C>T | |
| NG_059281.1:g.5551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.315+56C>T | ENSP00000494175.1:n.315+56C>T | |
| ENST00000335295.4:c.315+56C>T MANE Select | ENSP00000333994.3:n.315+56C>T | |
| ENST00000475226.1:n.247+56C>T | ||
| ENST00000485743.1:n.422C>T | ||
| ENST00000633227.1:c.*131+56C>T | ENSP00000488004.1:n.*131+56C>T | |
| NM_000518.4:c.315+56C>T | NP_000509.1:n.315+56C>T | |
| NM_000518.5:c.315+56C>T MANE Select | NP_000509.1:n.315+56C>T |