Canonical Allele Identifier:
CA14335425
Gene:
Linked Data
dbSNP Id:
rs12446554
gnomAD v2:
16-19935073-G-T
gnomAD v3:
16-19923751-G-T
gnomAD v4:
16-19923751-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.19923751G>T , CM000678.2:g.19923751G>T | GRCh38 |
| NC_000016.9:g.19935073G>T , CM000678.1:g.19935073G>T | GRCh37 |
| NC_000016.8:g.19842574G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_950894.1:n.131+29G>T | ||
| XR_950894.2:n.121+29G>T |