gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254983G>C , CM000673.2:g.5254983G>C | GRCh38 |
| NC_000011.9:g.5276213G>C , CM000673.1:g.5276213G>C | GRCh37 |
| NC_000011.8:g.5232789G>C | NCBI36 |
| NG_000007.3:g.42633C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380252.6:c.-73-469C>G | ENSP00000369602.2:n.-73-469C>G | |
| ENST00000380259.7:c.1292C>G | ENSP00000369609.3:n.1292C>G | |
| ENST00000643199.1:n.1235C>G | ||
| ENST00000646569.1:n.462C>G | ||
| ENST00000380252.5:c.63-469C>G | ENSP00000369602.1:n.63-469C>G | |
| ENST00000380259.6:c.-255C>G | ENSP00000369609.2:n.-255C>G |