Linked Data
ClinVar Variation Id:
863303
ClinVar RCV Id:
RCV001070242
dbSNP Id:
rs919904139
gnomAD v4:
19-33302027-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302027C>A , CM000681.2:g.33302027C>A | GRCh38 |
| NC_000019.9:g.33792933C>A , CM000681.1:g.33792933C>A | GRCh37 |
| NC_000019.8:g.38484773C>A | NCBI36 |
| NG_012022.1:g.5498G>T , LRG_456:g.5498G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.388G>T MANE Select | ENSP00000427514.1:p.Gly130Cys | |
| ENST00000498907.2:c.388G>T | ENSP00000427514.1:p.Gly130Cys | |
| NM_001285829.1:c.31G>T | NP_001272758.1:p.Gly11Cys | |
| NM_001287424.1:c.493G>T | NP_001274353.1:p.Gly165Cys | |
| NM_001287435.1:c.346G>T | NP_001274364.1:p.Gly116Cys | |
| NM_004364.4:c.388G>T | NP_004355.2:p.Gly130Cys | |
| NM_001287424.2:c.493G>T | NP_001274353.1:p.Gly165Cys | |
| NM_004364.5:c.388G>T MANE Select | NP_004355.2:p.Gly130Cys | |
| NM_001285829.2:c.31G>T | NP_001272758.1:p.Gly11Cys | |
| NM_001287435.2:c.346G>T | NP_001274364.1:p.Gly116Cys |