Linked Data
ClinVar Variation Id:
2995228
ClinVar RCV Id:
RCV003850835
dbSNP Id:
rs780320963
ExAC:
1:12317159 G / A
gnomAD v2:
1-12317159-G-A
gnomAD v4:
1-12257102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12257102G>A , CM000663.2:g.12257102G>A | GRCh38 |
| NC_000001.10:g.12317159G>A , CM000663.1:g.12317159G>A | GRCh37 |
| NC_000001.9:g.12239746G>A | NCBI36 |
| NG_056877.1:g.32064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.941+15G>A MANE Select | ENSP00000478104.1:n.941+15G>A | |
| ENST00000489961.1:n.422+15G>A | ||
| ENST00000613099.4:c.941+15G>A | ENSP00000482233.1:n.941+15G>A | |
| ENST00000620676.4:c.941+15G>A | ENSP00000478104.1:n.941+15G>A | |
| NM_015378.3:c.941+15G>A | NP_056193.2:n.941+15G>A | |
| NM_018156.3:c.941+15G>A | NP_060626.2:n.941+15G>A | |
| NM_015378.4:c.941+15G>A MANE Select | NP_056193.2:n.941+15G>A | |
| NM_018156.4:c.941+15G>A | NP_060626.2:n.941+15G>A |