Linked Data
ClinVar Variation Id:
100127
ClinVar RCV Id:
RCV001522005
dbSNP Id:
rs1801019
ExAC:
3:124456742 G / C
gnomAD v2:
3-124456742-G-C
gnomAD v3:
3-124737895-G-C
gnomAD v4:
3-124737895-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737895G>C , CM000665.2:g.124737895G>C | GRCh38 |
| NC_000003.11:g.124456742G>C , CM000665.1:g.124456742G>C | GRCh37 |
| NC_000003.10:g.125939432G>C | NCBI36 |
| NG_017037.1:g.12530G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.638G>C MANE Select | ENSP00000232607.2:p.Gly213Ala | |
| ENST00000232607.6:c.638G>C | ENSP00000232607.2:p.Gly213Ala | |
| ENST00000460034.5:c.*382G>C | ENSP00000420409.1:n.*382G>C | |
| ENST00000462091.5:c.*310G>C | ENSP00000417893.1:n.*310G>C | |
| ENST00000467167.5:c.*536G>C | ENSP00000419618.1:n.*536G>C | |
| ENST00000474588.5:c.311-20G>C | ENSP00000420348.1:n.311-20G>C | |
| ENST00000479719.5:c.638G>C | ENSP00000420754.1:p.Gly213Ala | |
| ENST00000497791.5:c.*310G>C | ENSP00000419121.1:n.*310G>C | |
| ENST00000498715.1:n.356G>C | ||
| NM_000373.3:c.638G>C | NP_000364.1:p.Gly213Ala | |
| NR_033434.1:n.590G>C | ||
| NR_033437.1:n.843G>C | ||
| XR_001740253.2:n.668G>C | ||
| NM_000373.4:c.638G>C MANE Select | NP_000364.1:p.Gly213Ala | |
| NR_033434.2:n.504G>C | ||
| NR_033437.2:n.757G>C |