Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225728T>C , CM000673.2:g.5225728T>C | GRCh38 |
| NC_000011.9:g.5246958T>C , CM000673.1:g.5246958T>C | GRCh37 |
| NC_000011.8:g.5203534T>C | NCBI36 |
| NG_000007.3:g.71888A>G | |
| NG_059281.1:g.6344A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.316-2A>G MANE Select | NP_000509.1:n.316-2A>G |
| ENST00000335295.4:c.316-2A>G MANE Select | ENSP00000333994.3:n.316-2A>G |
| NM_000518.4:c.316-2A>G | NP_000509.1:n.316-2A>G |
| ENST00000475226.1:n.248-2A>G | |
| ENST00000633227.1:c.*132-2A>G | ENSP00000488004.1:n.*132-2A>G |
| ENST00000647020.1:c.316-2A>G | ENSP00000494175.1:n.316-2A>G |