Linked Data
ClinVar Variation Id:
291912
ClinVar RCV Id:
RCV000309812
dbSNP Id:
rs144301005
gnomAD v2:
1-113498704-C-A
gnomAD v3:
1-112956082-C-A
gnomAD v4:
1-112956082-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112956082C>A , CM000663.2:g.112956082C>A | GRCh38 |
| NC_000001.10:g.113498704C>A , CM000663.1:g.113498704C>A | GRCh37 |
| NC_000001.9:g.113300227C>A | NCBI36 |
| NG_015880.2:g.4847G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.-92G>T MANE Select | ENSP00000358640.4:n.-92G>T | |
| ENST00000429288.2:c.-45+757G>T | ENSP00000397106.2:n.-45+757G>T | |
| ENST00000458229.6:c.-195G>T | ENSP00000416167.2:n.-195G>T | |
| ENST00000679803.1:c.-45+1456G>T | ENSP00000505879.1:n.-45+1456G>T | |
| ENST00000369626.7:c.-92G>T | ENSP00000358640.3:n.-92G>T | |
| ENST00000429288.1:c.-45+757G>T | ENSP00000397106.1:n.-45+757G>T | |
| ENST00000478835.1:n.100G>T | ||
| NM_003051.3:c.-92G>T | NP_003042.3:n.-92G>T | |
| NM_003051.4:c.-92G>T MANE Select | NP_003042.3:n.-92G>T | |
| NM_001166496.2:c.-851G>T | NP_001159968.1:n.-851G>T |