Linked Data
ClinVar Variation Id:
1354970
ClinVar RCV Id:
RCV001866684
dbSNP Id:
rs1705180182
gnomAD v3:
3-81670924-T-C
gnomAD v4:
3-81670924-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670924T>C , CM000665.2:g.81670924T>C | GRCh38 |
| NC_000003.11:g.81720075T>C , CM000665.1:g.81720075T>C | GRCh37 |
| NC_000003.10:g.81802765T>C | NCBI36 |
| NG_011810.1:g.95877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.343A>G MANE Select | ENSP00000410833.2:p.Lys115Glu | |
| ENST00000429644.6:c.343A>G | ENSP00000410833.2:p.Lys115Glu | |
| ENST00000477426.1:n.59A>G | ||
| ENST00000489715.1:c.220A>G | ENSP00000419638.1:p.Lys74Glu | |
| NM_000158.3:c.343A>G | NP_000149.3:p.Lys115Glu | |
| NM_000158.4:c.343A>G MANE Select | NP_000149.4:p.Lys115Glu |