Linked Data
ClinVar Variation Id:
2416970
ClinVar RCV Id:
RCV003111798
dbSNP Id:
rs779187578
gnomAD v4:
2-73490003-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490003G>C , CM000664.2:g.73490003G>C | GRCh38 |
| NC_000002.11:g.73717130G>C , CM000664.1:g.73717130G>C | GRCh37 |
| NC_000002.10:g.73570638G>C | NCBI36 |
| NG_011690.1:g.109251G>C , LRG_741:g.109251G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7663G>C | ENSP00000507671.1:p.Glu2555Gln | |
| ENST00000682801.1:c.7663G>C | ENSP00000507862.1:p.Glu2555Gln | |
| ENST00000682859.1:c.7663G>C | ENSP00000508222.1:p.Glu2555Gln | |
| ENST00000683791.1:c.1055G>C | ||
| ENST00000684460.1:c.5115G>C | ||
| ENST00000684548.1:c.7663G>C | ENSP00000507421.1:p.Glu2555Gln | |
| ENST00000684590.1:c.2110G>C | ENSP00000507376.1:p.Glu704Gln | |
| ENST00000684656.1:c.5115G>C | ||
| ENST00000613296.6:c.8044G>C MANE Select | ENSP00000482968.1:p.Glu2682Gln | |
| ENST00000651434.1:c.896-29772G>C | ||
| ENST00000423048.5:c.2875G>C | ENSP00000399833.1:p.Glu959Gln | |
| ENST00000484298.5:c.7918G>C | ENSP00000478155.1:p.Glu2640Gln | |
| ENST00000613296.4:c.8044G>C | ENSP00000482968.1:p.Glu2682Gln | |
| ENST00000614410.4:c.8044G>C | ENSP00000479094.1:p.Glu2682Gln | |
| ENST00000620466.4:n.1847G>C | ||
| NM_015120.4:c.8047G>C , LRG_741t1:c.8047G>C | NP_055935.4:p.Glu2683Gln | |
| NM_001378454.1:c.8044G>C MANE Select | NP_001365383.1:p.Glu2682Gln |