Canonical Allele Identifier:
CA2639246539
Gene:
Linked Data
gnomAD v4:
17-63498404-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63498404A>C , CM000679.2:g.63498404A>C | GRCh38 |
| NC_000017.10:g.61575765A>C , CM000679.1:g.61575765A>C | GRCh37 |
| NC_000017.9:g.58929497A>C | NCBI36 |
| NG_011648.1:g.26332A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577647.2:c.1969+1419A>C | ENSP00000464149.1:n.1969+1419A>C |