Linked Data
ClinVar Variation Id:
1087235
ClinVar RCV Id:
RCV001405274
dbSNP Id:
rs1384844563
gnomAD v2:
11-112099403-G-A
gnomAD v3:
11-112228680-G-A
gnomAD v4:
11-112228680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228680G>A , CM000673.2:g.112228680G>A | GRCh38 |
| NC_000011.9:g.112099403G>A , CM000673.1:g.112099403G>A | GRCh37 |
| NC_000011.8:g.111604613G>A | NCBI36 |
| NG_008743.1:g.7316G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.163+7G>A MANE Select | ENSP00000280362.3:n.163+7G>A | |
| ENST00000280362.7:c.163+7G>A | ENSP00000280362.3:n.163+7G>A | |
| ENST00000524931.1:c.-42+7G>A | ENSP00000434688.1:n.-42+7G>A | |
| ENST00000525645.1:n.245G>A | ||
| ENST00000525803.1:c.163+7G>A | ENSP00000431750.1:n.163+7G>A | |
| ENST00000528679.5:c.163+7G>A | ENSP00000435895.1:n.163+7G>A | |
| ENST00000531673.5:c.163+7G>A | ENSP00000433469.1:n.163+7G>A | |
| NM_000317.2:c.163+7G>A | NP_000308.1:n.163+7G>A | |
| XM_011542943.1:c.-683G>A | XP_011541245.1:n.-683G>A | |
| NM_000317.3:c.163+7G>A MANE Select | NP_000308.1:n.163+7G>A |