Canonical Allele Identifier:
CA951861884
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111766623A>T , CM000674.2:g.111766623A>T | GRCh38 |
| NC_000012.11:g.112204427A>T , CM000674.1:g.112204427A>T | GRCh37 |
| NC_000012.10:g.110688810A>T | NCBI36 |
| NG_012250.1:g.5082A>T | |
| NG_012250.2:g.4737A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546840.3:c.104+10878A>T | ||
| ENST00000546840.2:c.99+10878A>T | ENSP00000450353.3:n.99+10878A>T |