Linked Data
ClinVar Variation Id:
1167167
ClinVar RCV Id:
RCV001516140
dbSNP Id:
rs74159166
ExAC:
10:124266187 G / A
gnomAD v2:
10-124266187-G-A
gnomAD v3:
10-122506671-G-A
gnomAD v4:
10-122506671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506671G>A , CM000672.2:g.122506671G>A | GRCh38 |
| NC_000010.10:g.124266187G>A , CM000672.1:g.124266187G>A | GRCh37 |
| NC_000010.9:g.124256177G>A | NCBI36 |
| NG_011554.1:g.50147G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.778-20G>A MANE Select | ENSP00000357980.3:n.778-20G>A | |
| ENST00000648167.1:c.460-20G>A | ENSP00000498033.1:n.460-20G>A | |
| ENST00000368984.7:c.778-20G>A | ENSP00000357980.3:n.778-20G>A | |
| NM_002775.4:c.778-20G>A | NP_002766.1:n.778-20G>A | |
| NM_002775.5:c.778-20G>A MANE Select | NP_002766.1:n.778-20G>A |