Linked Data
dbSNP Id:
rs1428709070
gnomAD v2:
6-126767712-G-A
gnomAD v3:
6-126446566-G-A
gnomAD v4:
6-126446566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126446566G>A , CM000668.2:g.126446566G>A | GRCh38 |
| NC_000006.11:g.126767712G>A , CM000668.1:g.126767712G>A | GRCh37 |
| NC_000006.10:g.126809405G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651326.1:n.2417+25901C>T | ||
| ENST00000652383.1:n.630+85097C>T | ||
| NR_104462.1:n.800+12941G>A | ||
| NR_104462.2:n.474+12941G>A |