Linked Data
ClinVar Variation Id:
331670
ClinVar RCV Id:
RCV000333539
dbSNP Id:
rs886054982
gnomAD v3:
2-156332737-A-G
gnomAD v4:
2-156332737-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156332737A>G , CM000664.2:g.156332737A>G | GRCh38 |
| NC_000002.11:g.157189249A>G , CM000664.1:g.157189249A>G | GRCh37 |
| NC_000002.10:g.156897495A>G | NCBI36 |
| NG_011821.1:g.5039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700228.1:c.-496T>C | ENSP00000514865.1:n.-496T>C | |
| ENST00000409572.5:c.-126-1946T>C | ENSP00000386747.1:n.-126-1946T>C | |
| NM_006186.3:c.-384T>C | NP_006177.1:n.-384T>C | |
| XM_005246621.2:c.-227T>C | XP_005246678.1:n.-227T>C | |
| XM_006712553.2:c.-227T>C | XP_006712616.1:n.-227T>C | |
| XM_011511246.1:c.-227T>C | XP_011509548.1:n.-227T>C | |
| XR_427087.2:n.1947T>C | ||
| NM_173173.2:c.-395T>C | NP_775265.1:n.-395T>C |