Linked Data
ClinVar Variation Id:
1778023
ClinVar RCV Id:
RCV002406098
dbSNP Id:
rs375019820
ExAC:
2:73799550 C / G
gnomAD v2:
2-73799550-C-G
gnomAD v3:
2-73572423-C-G
gnomAD v4:
2-73572423-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572423C>G , CM000664.2:g.73572423C>G | GRCh38 |
| NC_000002.11:g.73799550C>G , CM000664.1:g.73799550C>G | GRCh37 |
| NC_000002.10:g.73653058C>G | NCBI36 |
| NG_011690.1:g.191671C>G , LRG_741:g.191671C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10165C>G | ENSP00000507671.1:p.Gln3389Glu | |
| ENST00000682801.1:c.10165C>G | ENSP00000507862.1:p.Gln3389Glu | |
| ENST00000682859.1:c.10165C>G | ENSP00000508222.1:p.Gln3389Glu | |
| ENST00000683791.1:c.3251C>G | ||
| ENST00000684460.1:c.7446C>G | ||
| ENST00000684548.1:c.10165C>G | ENSP00000507421.1:p.Gln3389Glu | |
| ENST00000684590.1:c.4612C>G | ENSP00000507376.1:p.Gln1538Glu | |
| ENST00000684656.1:c.7491C>G | ||
| ENST00000613296.6:c.10546C>G MANE Select | ENSP00000482968.1:p.Gln3516Glu | |
| ENST00000651057.1:c.700C>G | ENSP00000498504.1:p.Gln234Glu | |
| ENST00000651434.1:c.1902C>G | ||
| ENST00000652487.1:c.1643C>G | ||
| ENST00000423048.5:c.4037C>G | ENSP00000399833.1:n.4037C>G | |
| ENST00000484298.5:c.10420C>G | ENSP00000478155.1:p.Gln3474Glu | |
| ENST00000613296.4:c.10546C>G | ENSP00000482968.1:p.Gln3516Glu | |
| ENST00000614410.4:c.10546C>G | ENSP00000479094.1:p.Gln3516Glu | |
| ENST00000620466.4:n.4349C>G | ||
| NM_015120.4:c.10549C>G , LRG_741t1:c.10549C>G | NP_055935.4:p.Gln3517Glu | |
| NM_001378454.1:c.10546C>G MANE Select | NP_001365383.1:p.Gln3516Glu |