Linked Data
ClinVar Variation Id:
235761
dbSNP Id:
rs377305989
ExAC:
3:81720072 T / C
gnomAD v2:
3-81720072-T-C
gnomAD v3:
3-81670921-T-C
gnomAD v4:
3-81670921-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670921T>C , CM000665.2:g.81670921T>C | GRCh38 |
| NC_000003.11:g.81720072T>C , CM000665.1:g.81720072T>C | GRCh37 |
| NC_000003.10:g.81802762T>C | NCBI36 |
| NG_011810.1:g.95880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.346A>G MANE Select | ENSP00000410833.2:p.Lys116Glu | |
| ENST00000429644.6:c.346A>G | ENSP00000410833.2:p.Lys116Glu | |
| ENST00000477426.1:n.62A>G | ||
| ENST00000489715.1:c.223A>G | ENSP00000419638.1:p.Lys75Glu | |
| NM_000158.3:c.346A>G | NP_000149.3:p.Lys116Glu | |
| NM_000158.4:c.346A>G MANE Select | NP_000149.4:p.Lys116Glu |