Linked Data
ClinVar Variation Id:
297325
ClinVar RCV Id:
RCV000390920
dbSNP Id:
rs114944537
gnomAD v2:
1-43199739-C-A
gnomAD v3:
1-42734068-C-A
gnomAD v4:
1-42734068-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42734068C>A , CM000663.2:g.42734068C>A | GRCh38 |
| NC_000001.10:g.43199739C>A , CM000663.1:g.43199739C>A | GRCh37 |
| NC_000001.9:g.42972326C>A | NCBI36 |
| NG_008993.1:g.11187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*1018G>T MANE Select | ENSP00000296387.1:n.*1018G>T | |
| ENST00000296387.5:c.*1018G>T | ENSP00000296387.1:n.*1018G>T | |
| ENST00000539749.5:c.*1694G>T | ENSP00000443229.1:n.*1694G>T | |
| NM_001123395.1:c.*1800G>T | NP_001116867.1:n.*1800G>T | |
| NM_001185117.1:c.*1694G>T | NP_001172046.1:n.*1694G>T | |
| NM_148960.2:c.*1018G>T | NP_683763.2:n.*1018G>T | |
| NM_001123395.2:c.*1800G>T | NP_001116867.1:n.*1800G>T | |
| NM_148960.3:c.*1018G>T MANE Select | NP_683763.2:n.*1018G>T | |
| NM_001185117.2:c.*1694G>T | NP_001172046.1:n.*1694G>T |