Linked Data
ClinVar Variation Id:
2171119
ClinVar RCV Id:
RCV003080896
dbSNP Id:
rs779434645
ExAC:
9:6556188 G / C
gnomAD v2:
9-6556188-G-C
gnomAD v4:
9-6556188-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556188G>C , CM000671.2:g.6556188G>C | GRCh38 |
| NC_000009.11:g.6556188G>C , CM000671.1:g.6556188G>C | GRCh37 |
| NC_000009.10:g.6546188G>C | NCBI36 |
| NG_016397.1:g.94505C>G , LRG_643:g.94505C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2167C>G MANE Select | ENSP00000370737.4:p.Gln723Glu | |
| ENST00000638233.1:n.602C>G | ||
| ENST00000638661.1:c.367C>G | ENSP00000491369.1:p.Gln123Glu | |
| ENST00000638694.1:n.354C>G | ||
| ENST00000639318.1:c.367C>G | ENSP00000491932.1:p.Gln123Glu | |
| ENST00000639364.1:n.1867C>G | ||
| ENST00000639443.1:n.1735C>G | ||
| ENST00000639954.1:n.1875C>G | ||
| ENST00000640505.1:n.406C>G | ||
| ENST00000321612.6:c.2167C>G | ENSP00000370737.3:p.Gln723Glu | |
| NM_000170.2:c.2167C>G , LRG_643t1:c.2167C>G | NP_000161.2:p.Gln723Glu | |
| NM_000170.3:c.2167C>G MANE Select | NP_000161.2:p.Gln723Glu |