Linked Data
dbSNP Id:
rs10790212
gnomAD v2:
11-117702690-C-T
gnomAD v3:
11-117831975-C-T
gnomAD v4:
11-117831975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117831975C>T , CM000673.2:g.117831975C>T | GRCh38 |
| NC_000011.9:g.117702690C>T , CM000673.1:g.117702690C>T | GRCh37 |
| NC_000011.8:g.117207900C>T | NCBI36 |
| NG_011543.1:g.1118G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532984.1:c.272+7806G>A | ENSP00000463024.1:n.272+7806G>A | |
| ENST00000614497.5:c.259+7806G>A | ENSP00000482442.1:n.259+7806G>A | |
| NM_001204268.1:c.259+7806G>A | NP_001191197.1:n.259+7806G>A | |
| NM_001243598.2:c.272+7806G>A | NP_001230527.1:n.272+7806G>A | |
| NM_001204268.2:c.259+7806G>A | NP_001191197.1:n.259+7806G>A | |
| NM_001243598.3:c.272+7806G>A | NP_001230527.1:n.272+7806G>A | |
| NM_001204268.3:c.259+7806G>A | NP_001191197.1:n.259+7806G>A | |
| NM_001243598.4:c.272+7806G>A | NP_001230527.1:n.272+7806G>A |