Canonical Allele Identifier:
CA2665722788
Gene:
Linked Data
gnomAD v4:
3-49359118-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49359118G>T , CM000665.2:g.49359118G>T | GRCh38 |
| NC_000003.11:g.49396551G>T , CM000665.1:g.49396551G>T | GRCh37 |
| NC_000003.10:g.49371555G>T | NCBI36 |
| NG_012264.1:g.4241C>A | |
| NG_051308.1:g.57980C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704380.1:n.24C>A | ||
| ENST00000704381.1:c.464+1209C>A | ENSP00000515884.1:n.464+1209C>A |