Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226529C>A , CM000673.2:g.5226529C>A | GRCh38 |
| NC_000011.9:g.5247759C>A , CM000673.1:g.5247759C>A | GRCh37 |
| NC_000011.8:g.5204335C>A | NCBI36 |
| NG_000007.3:g.71087G>T | |
| NG_059281.1:g.5543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+48G>T | ENSP00000494175.1:n.315+48G>T | |
| ENST00000335295.4:c.315+48G>T MANE Select | ENSP00000333994.3:n.315+48G>T | |
| ENST00000475226.1:n.247+48G>T | ||
| ENST00000485743.1:n.414G>T | ||
| ENST00000633227.1:c.*131+48G>T | ENSP00000488004.1:n.*131+48G>T | |
| NM_000518.4:c.315+48G>T | NP_000509.1:n.315+48G>T | |
| NM_000518.5:c.315+48G>T MANE Select | NP_000509.1:n.315+48G>T |