Linked Data
ClinVar Variation Id:
756638
ClinVar RCV Id:
RCV000934157
dbSNP Id:
rs200634946
ExAC:
19:36398368 C / T
gnomAD v2:
19-36398368-C-T
gnomAD v3:
19-35907466-C-T
gnomAD v4:
19-35907466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907466C>T , CM000681.2:g.35907466C>T | GRCh38 |
| NC_000019.9:g.36398368C>T , CM000681.1:g.36398368C>T | GRCh37 |
| NC_000019.8:g.41090208C>T | NCBI36 |
| NG_009304.1:g.5819G>A , LRG_607:g.5819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.209G>A MANE Select | ENSP00000262629.3:p.Arg70Gln | |
| ENST00000262629.8:c.209G>A | ENSP00000262629.3:p.Arg70Gln | |
| ENST00000424586.7:c.176G>A | ENSP00000402371.3:p.Arg59Gln | |
| ENST00000544690.6:c.176G>A | ENSP00000445332.1:p.Arg59Gln | |
| ENST00000585626.1:n.276G>A | ||
| ENST00000585901.6:c.209G>A | ENSP00000468608.1:p.Arg70Gln | |
| ENST00000586946.1:c.*94G>A | ENSP00000465656.1:n.*94G>A | |
| ENST00000587837.5:c.*94G>A | ENSP00000465081.1:n.*94G>A | |
| ENST00000588439.1:n.353G>A | ||
| ENST00000589517.1:c.209G>A | ENSP00000468447.1:p.Arg70Gln | |
| NM_001173514.1:c.176G>A | NP_001166985.1:p.Arg59Gln | |
| NM_001173515.1:c.176G>A | NP_001166986.1:p.Arg59Gln | |
| NM_003332.3:c.209G>A , LRG_607t1:c.209G>A | NP_003323.1:p.Arg70Gln | |
| NM_198125.2:c.209G>A | NP_937758.1:p.Arg70Gln | |
| NR_033390.1:n.250G>A | ||
| NM_001173514.2:c.176G>A | NP_001166985.1:p.Arg59Gln | |
| NM_001173515.2:c.176G>A | NP_001166986.1:p.Arg59Gln | |
| NM_003332.4:c.209G>A MANE Select | NP_003323.1:p.Arg70Gln | |
| NM_198125.3:c.209G>A | NP_937758.1:p.Arg70Gln | |
| NR_033390.2:n.236G>A |