Linked Data
ClinVar Variation Id:
3209009
ClinVar RCV Id:
RCV004504885
dbSNP Id:
rs1426327322
gnomAD v4:
3-139346932-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139346932A>G , CM000665.2:g.139346932A>G | GRCh38 |
| NC_000003.11:g.139065774A>G , CM000665.1:g.139065774A>G | GRCh37 |
| NC_000003.10:g.140548464A>G | NCBI36 |
| NG_012174.1:g.7914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478464.6:c.17A>G | ENSP00000419303.2:p.Gln6Arg | |
| ENST00000480644.2:c.227A>G | ENSP00000420229.2:p.Gln76Arg | |
| ENST00000492644.2:n.241A>G | ||
| ENST00000684961.1:c.-42-1228A>G | ENSP00000508439.1:n.-42-1228A>G | |
| ENST00000686433.1:c.227A>G | ENSP00000509173.1:p.Gln76Arg | |
| ENST00000687538.1:c.17A>G | ENSP00000508887.1:p.Gln6Arg | |
| ENST00000688697.1:c.227A>G | ENSP00000510396.1:p.Gln76Arg | |
| ENST00000689286.1:c.17A>G | ENSP00000509897.1:p.Gln6Arg | |
| ENST00000689925.1:c.17A>G | ENSP00000510082.1:p.Gln6Arg | |
| ENST00000690298.1:c.173-1228A>G | ENSP00000509376.1:n.173-1228A>G | |
| ENST00000691070.1:c.227A>G | ENSP00000509723.1:p.Gln76Arg | |
| ENST00000692727.1:n.241A>G | ||
| ENST00000693155.1:n.250A>G | ||
| ENST00000310776.9:c.224A>G | ENSP00000310785.5:p.Gln75Arg | |
| ENST00000680020.1:c.227A>G MANE Select | ENSP00000505414.1:p.Gln76Arg | |
| ENST00000310776.8:c.227A>G | ENSP00000310785.4:p.Gln76Arg | |
| ENST00000465056.5:c.224A>G | ENSP00000418233.1:p.Gln75Arg | |
| ENST00000465373.5:c.242A>G | ENSP00000419920.1:p.Gln81Arg | |
| ENST00000466690.5:c.213A>G | ||
| ENST00000478464.5:c.104A>G | ENSP00000419303.1:p.Gln35Arg | |
| ENST00000480938.5:n.227A>G | ||
| ENST00000486705.1:n.138A>G | ||
| ENST00000495075.5:c.227A>G | ENSP00000418008.1:p.Gln76Arg | |
| ENST00000495225.1:c.137A>G | ENSP00000417104.1:p.Gln46Arg | |
| ENST00000498505.5:c.224A>G | ENSP00000420482.1:p.Gln75Arg | |
| NM_020191.2:c.227A>G | NP_064576.1:p.Gln76Arg | |
| XM_005247640.2:c.224A>G | XP_005247697.1:p.Gln75Arg | |
| XM_006713703.2:c.227A>G | XP_006713766.1:p.Gln76Arg | |
| XM_011512995.1:c.104A>G | XP_011511297.1:p.Gln35Arg | |
| XM_011512996.1:c.101A>G | XP_011511298.1:p.Gln34Arg | |
| NM_001363857.1:c.104A>G | NP_001350786.1:p.Gln35Arg | |
| NM_001363893.1:c.224A>G | NP_001350822.1:p.Gln75Arg | |
| NM_020191.3:c.227A>G | NP_064576.1:p.Gln76Arg | |
| XM_006713703.4:c.227A>G | XP_006713766.1:p.Gln76Arg | |
| XM_011512996.2:c.101A>G | XP_011511298.1:p.Gln34Arg | |
| NM_020191.4:c.227A>G MANE Select | NP_064576.1:p.Gln76Arg |