Linked Data
ClinVar Variation Id:
501910
dbSNP Id:
rs140844253
ExAC:
3:184910372 T / C
gnomAD v2:
3-184910372-T-C
gnomAD v3:
3-185192584-T-C
gnomAD v4:
3-185192584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192584T>C , CM000665.2:g.185192584T>C | GRCh38 |
| NC_000003.11:g.184910372T>C , CM000665.1:g.184910372T>C | GRCh37 |
| NC_000003.10:g.186393066T>C | NCBI36 |
| NG_015999.1:g.66515A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.1814A>G MANE Select | ENSP00000231887.3:p.Lys605Arg | |
| ENST00000231887.7:c.1814A>G | ENSP00000231887.3:p.Lys605Arg | |
| ENST00000456310.5:c.1526A>G | ENSP00000387746.1:p.Lys509Arg | |
| NM_001166415.1:c.1526A>G | NP_001159887.1:p.Lys509Arg | |
| NM_001966.3:c.1814A>G | NP_001957.2:p.Lys605Arg | |
| XM_006713525.1:c.1190A>G | XP_006713588.1:p.Lys397Arg | |
| XM_011512517.1:c.1526A>G | XP_011510819.1:p.Lys509Arg | |
| NM_001966.4:c.1814A>G MANE Select | NP_001957.2:p.Lys605Arg | |
| NM_001166415.2:c.1526A>G | NP_001159887.1:p.Lys509Arg |