Canonical Allele Identifier:
CA1139016943
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8599012G>C , CM000686.2:g.8599012G>C | GRCh38 |
| NC_000024.9:g.8467053G>C , CM000686.1:g.8467053G>C | GRCh37 |
| NC_000024.8:g.8527053G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624507.1:c.89+5983C>G | ENSP00000485522.1:n.89+5983C>G | |
| ENST00000624593.1:c.93-20389C>G | ENSP00000485106.1:n.93-20389C>G |