Linked Data
ClinVar Variation Id:
426281
dbSNP Id:
rs572605877
ExAC:
2:73675838 A / G
gnomAD v2:
2-73675838-A-G
gnomAD v3:
2-73448711-A-G
gnomAD v4:
2-73448711-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73448711A>G , CM000664.2:g.73448711A>G | GRCh38 |
| NC_000002.11:g.73675838A>G , CM000664.1:g.73675838A>G | GRCh37 |
| NC_000002.10:g.73529346A>G | NCBI36 |
| NG_011690.1:g.67959A>G , LRG_741:g.67959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.1803A>G | ENSP00000507671.1:p.Gln601= | |
| ENST00000682801.1:c.1803A>G | ENSP00000507862.1:p.Gln601= | |
| ENST00000682859.1:c.1803A>G | ENSP00000508222.1:p.Gln601= | |
| ENST00000683791.1:c.685+16420A>G | ||
| ENST00000684548.1:c.1803A>G | ENSP00000507421.1:p.Gln601= | |
| ENST00000613296.6:c.2184A>G MANE Select | ENSP00000482968.1:p.Gln728= | |
| ENST00000484298.5:c.2058A>G | ENSP00000478155.1:p.Gln686= | |
| ENST00000613296.4:c.2184A>G | ENSP00000482968.1:p.Gln728= | |
| ENST00000614410.4:c.2184A>G | ENSP00000479094.1:p.Gln728= | |
| NM_015120.4:c.2187A>G , LRG_741t1:c.2187A>G | NP_055935.4:p.Gln729= | |
| NM_001378454.1:c.2184A>G MANE Select | NP_001365383.1:p.Gln728= |