Linked Data
dbSNP Id:
rs181630359
gnomAD v2:
6-32787020-C-T
gnomAD v3:
6-32819243-C-T
gnomAD v4:
6-32819243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819243C>T , CM000668.2:g.32819243C>T | GRCh38 |
| NC_000006.11:g.32787020C>T , CM000668.1:g.32787020C>T | GRCh37 |
| NC_000006.10:g.32894998C>T | NCBI36 |
| NG_009793.3:g.24528G>A | |
| NG_012008.1:g.2806G>A | |
| NG_009793.4:g.24528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-2+1068G>A | ENSP00000496848.1:n.-2+1068G>A | |
| ENST00000452392.2:c.1933-2291G>A | ENSP00000391806.2:n.1933-2291G>A |