Linked Data
dbSNP Id:
rs1894407
gnomAD v2:
6-32787036-C-A
gnomAD v3:
6-32819259-C-A
gnomAD v4:
6-32819259-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32819259C>A , CM000668.2:g.32819259C>A | GRCh38 |
| NC_000006.11:g.32787036C>A , CM000668.1:g.32787036C>A | GRCh37 |
| NC_000006.10:g.32895014C>A | NCBI36 |
| NG_009793.3:g.24512G>T | |
| NG_012008.1:g.2790G>T | |
| NG_009793.4:g.24512G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648009.1:c.-2+1052G>T | ENSP00000496848.1:n.-2+1052G>T | |
| ENST00000452392.2:c.1933-2307G>T | ENSP00000391806.2:n.1933-2307G>T |