Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115459G>C , CM000681.2:g.10115459G>C | GRCh38 |
| NC_000019.9:g.10226135G>C , CM000681.1:g.10226135G>C | GRCh37 |
| NC_000019.8:g.10087135G>C | NCBI36 |
| NG_047007.1:g.8939G>C | |
| NG_051197.1:g.9466C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+20C>G MANE Select | ENSP00000253108.3:n.947+20C>G | |
| ENST00000253108.8:c.947+20C>G | ENSP00000253108.3:n.947+20C>G | |
| ENST00000590158.1:n.966+20C>G | ||
| ENST00000593054.5:c.341+20C>G | ENSP00000467187.1:n.341+20C>G | |
| NM_003755.3:c.947+20C>G | NP_003746.2:n.947+20C>G | |
| NM_003755.4:c.947+20C>G | NP_003746.2:n.947+20C>G | |
| NM_003755.5:c.947+20C>G MANE Select | NP_003746.2:n.947+20C>G |