Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225733G>C , CM000673.2:g.5225733G>C | GRCh38 |
| NC_000011.9:g.5246963G>C , CM000673.1:g.5246963G>C | GRCh37 |
| NC_000011.8:g.5203539G>C | NCBI36 |
| NG_000007.3:g.71883C>G | |
| NG_059281.1:g.6339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-7C>G | ENSP00000494175.1:n.316-7C>G | |
| ENST00000335295.4:c.316-7C>G MANE Select | ENSP00000333994.3:n.316-7C>G | |
| ENST00000475226.1:n.248-7C>G | ||
| ENST00000633227.1:c.*132-7C>G | ENSP00000488004.1:n.*132-7C>G | |
| NM_000518.4:c.316-7C>G | NP_000509.1:n.316-7C>G | |
| NM_000518.5:c.316-7C>G MANE Select | NP_000509.1:n.316-7C>G |