Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226575A>C , CM000673.2:g.5226575A>C | GRCh38 |
| NC_000011.9:g.5247805A>C , CM000673.1:g.5247805A>C | GRCh37 |
| NC_000011.8:g.5204381A>C | NCBI36 |
| NG_000007.3:g.71041T>G | |
| NG_059281.1:g.5497T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+2T>G | ENSP00000494175.1:n.315+2T>G | |
| ENST00000335295.4:c.315+2T>G MANE Select | ENSP00000333994.3:n.315+2T>G | |
| ENST00000475226.1:n.247+2T>G | ||
| ENST00000485743.1:n.368T>G | ||
| ENST00000633227.1:c.*131+2T>G | ENSP00000488004.1:n.*131+2T>G | |
| NM_000518.4:c.315+2T>G | NP_000509.1:n.315+2T>G | |
| NM_000518.5:c.315+2T>G MANE Select | NP_000509.1:n.315+2T>G |