Linked Data
dbSNP Id:
rs116465281
gnomAD v2:
3-142535266-C-T
gnomAD v3:
3-142816424-C-T
gnomAD v4:
3-142816424-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142816424C>T , CM000665.2:g.142816424C>T | GRCh38 |
| NC_000003.11:g.142535266C>T , CM000665.1:g.142535266C>T | GRCh37 |
| NC_000003.10:g.144017956C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470310.5:c.648+111G>A | ENSP00000419643.1:n.648+111G>A |