Linked Data
dbSNP Id:
rs1445138688
gnomAD v2:
6-32787000-C-A
gnomAD v3:
6-32819223-C-A
gnomAD v4:
6-32819223-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819223C>A , CM000668.2:g.32819223C>A | GRCh38 |
| NC_000006.11:g.32787000C>A , CM000668.1:g.32787000C>A | GRCh37 |
| NC_000006.10:g.32894978C>A | NCBI36 |
| NG_009793.3:g.24548G>T | |
| NG_012008.1:g.2826G>T | |
| NG_009793.4:g.24548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-2+1088G>T | ENSP00000496848.1:n.-2+1088G>T | |
| ENST00000452392.2:c.1933-2271G>T | ENSP00000391806.2:n.1933-2271G>T |