Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103544934C>G , CM000663.2:g.103544934C>G | GRCh38 |
| NC_000001.10:g.104087556C>G , CM000663.1:g.104087556C>G | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.1046-7C>G MANE Select | ENSP00000391432.1:n.1046-7C>G | |
| ENST00000423855.6:c.1046-7C>G | ENSP00000391432.1:n.1046-7C>G | |
| ENST00000524631.5:c.1043-7C>G | ENSP00000437278.1:n.1043-7C>G | |
| ENST00000524641.1:c.268-43C>G | ||
| ENST00000533099.5:c.1046-7C>G | ENSP00000432886.1:n.1046-7C>G | |
| ENST00000533834.1:n.373-7C>G | ||
| NM_017619.3:c.1046-7C>G | NP_060089.1:n.1046-7C>G | |
| NM_017619.4:c.1046-7C>G MANE Select | NP_060089.1:n.1046-7C>G |