Canonical Allele Identifier:
CA2639246538
Gene:
Linked Data
gnomAD v4:
17-63498403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63498403C>A , CM000679.2:g.63498403C>A | GRCh38 |
| NC_000017.10:g.61575764C>A , CM000679.1:g.61575764C>A | GRCh37 |
| NC_000017.9:g.58929496C>A | NCBI36 |
| NG_011648.1:g.26331C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577647.2:c.1969+1418C>A | ENSP00000464149.1:n.1969+1418C>A |