Linked Data
dbSNP Id:
rs7078160
gnomAD v2:
10-118827560-G-A
gnomAD v3:
10-117068049-G-A
gnomAD v4:
10-117068049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117068049G>A , CM000672.2:g.117068049G>A | GRCh38 |
| NC_000010.10:g.118827560G>A , CM000672.1:g.118827560G>A | GRCh37 |
| NC_000010.9:g.118817550G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392901.10:c.-188-19539C>T | ENSP00000376635.4:n.-188-19539C>T | |
| ENST00000392901.8:c.-188-19539C>T | ENSP00000376635.4:n.-188-19539C>T | |
| NM_001258300.1:c.-188-19539C>T | NP_001245229.1:n.-188-19539C>T |