Linked Data
ClinVar Variation Id:
1790807
ClinVar RCV Id:
RCV002459692
dbSNP Id:
rs1484586067
gnomAD v3:
2-73572846-G-C
gnomAD v4:
2-73572846-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572846G>C , CM000664.2:g.73572846G>C | GRCh38 |
| NC_000002.11:g.73799973G>C , CM000664.1:g.73799973G>C | GRCh37 |
| NC_000002.10:g.73653481G>C | NCBI36 |
| NG_011690.1:g.192094G>C , LRG_741:g.192094G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10588G>C | ENSP00000507671.1:p.Glu3530Gln | |
| ENST00000682801.1:c.10588G>C | ENSP00000507862.1:p.Glu3530Gln | |
| ENST00000682859.1:c.10588G>C | ENSP00000508222.1:p.Glu3530Gln | |
| ENST00000683791.1:c.3674G>C | ||
| ENST00000684460.1:c.7869G>C | ||
| ENST00000684548.1:c.10588G>C | ENSP00000507421.1:p.Glu3530Gln | |
| ENST00000684590.1:c.5035G>C | ENSP00000507376.1:p.Glu1679Gln | |
| ENST00000684656.1:c.7914G>C | ||
| ENST00000613296.6:c.10969G>C MANE Select | ENSP00000482968.1:p.Glu3657Gln | |
| ENST00000651057.1:c.1123G>C | ENSP00000498504.1:p.Glu375Gln | |
| ENST00000651434.1:c.2325G>C | ||
| ENST00000651750.1:c.357G>C | ||
| ENST00000652487.1:c.2066G>C | ||
| ENST00000423048.5:c.4460G>C | ENSP00000399833.1:n.4460G>C | |
| ENST00000484298.5:c.10843G>C | ENSP00000478155.1:p.Glu3615Gln | |
| ENST00000613296.4:c.10969G>C | ENSP00000482968.1:p.Glu3657Gln | |
| ENST00000614410.4:c.10969G>C | ENSP00000479094.1:p.Glu3657Gln | |
| ENST00000620466.4:n.4772G>C | ||
| NM_015120.4:c.10972G>C , LRG_741t1:c.10972G>C | NP_055935.4:p.Glu3658Gln | |
| NM_001378454.1:c.10969G>C MANE Select | NP_001365383.1:p.Glu3657Gln |