Linked Data
ClinVar Variation Id:
1935272
ClinVar RCV Id:
RCV002638961
dbSNP Id:
rs779373684
gnomAD v3:
2-73572655-A-G
gnomAD v4:
2-73572655-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572655A>G , CM000664.2:g.73572655A>G | GRCh38 |
| NC_000002.11:g.73799782A>G , CM000664.1:g.73799782A>G | GRCh37 |
| NC_000002.10:g.73653290A>G | NCBI36 |
| NG_011690.1:g.191903A>G , LRG_741:g.191903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10397A>G | ENSP00000507671.1:p.Gln3466Arg | |
| ENST00000682801.1:c.10397A>G | ENSP00000507862.1:p.Gln3466Arg | |
| ENST00000682859.1:c.10397A>G | ENSP00000508222.1:p.Gln3466Arg | |
| ENST00000683791.1:c.3483A>G | ||
| ENST00000684460.1:c.7678A>G | ||
| ENST00000684548.1:c.10397A>G | ENSP00000507421.1:p.Gln3466Arg | |
| ENST00000684590.1:c.4844A>G | ENSP00000507376.1:p.Gln1615Arg | |
| ENST00000684656.1:c.7723A>G | ||
| ENST00000613296.6:c.10778A>G MANE Select | ENSP00000482968.1:p.Gln3593Arg | |
| ENST00000651057.1:c.932A>G | ENSP00000498504.1:p.Gln311Arg | |
| ENST00000651434.1:c.2134A>G | ||
| ENST00000651750.1:c.166A>G | ||
| ENST00000652487.1:c.1875A>G | ||
| ENST00000423048.5:c.4269A>G | ENSP00000399833.1:n.4269A>G | |
| ENST00000484298.5:c.10652A>G | ENSP00000478155.1:p.Gln3551Arg | |
| ENST00000613296.4:c.10778A>G | ENSP00000482968.1:p.Gln3593Arg | |
| ENST00000614410.4:c.10778A>G | ENSP00000479094.1:p.Gln3593Arg | |
| ENST00000620466.4:n.4581A>G | ||
| NM_015120.4:c.10781A>G , LRG_741t1:c.10781A>G | NP_055935.4:p.Gln3594Arg | |
| NM_001378454.1:c.10778A>G MANE Select | NP_001365383.1:p.Gln3593Arg |