Linked Data
ClinVar Variation Id:
660581
ClinVar RCV Id:
RCV000817803
dbSNP Id:
rs184148104
ExAC:
12:103237500 G / C
gnomAD v2:
12-103237500-G-C
gnomAD v3:
12-102843722-G-C
gnomAD v4:
12-102843722-G-C
ERepo:
CA6748741/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843722G>C , CM000674.2:g.102843722G>C | GRCh38 |
| NC_000012.11:g.103237500G>C , CM000674.1:g.103237500G>C | GRCh37 |
| NC_000012.10:g.101761630G>C | NCBI36 |
| NG_008690.1:g.78881C>G | |
| NG_008690.2:g.119689C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1123C>G MANE Select | ENSP00000448059.1:p.Gln375Glu | |
| ENST00000307000.7:c.1108C>G | ENSP00000303500.2:p.Gln370Glu | |
| ENST00000549247.6:n.882C>G | ||
| ENST00000551114.2:n.785C>G | ||
| ENST00000553106.5:c.1123C>G | ENSP00000448059.1:p.Gln375Glu | |
| ENST00000635477.1:c.227C>G | ||
| ENST00000635528.1:n.638C>G | ||
| NM_000277.1:c.1123C>G | NP_000268.1:p.Gln375Glu | |
| XM_011538422.1:c.1066C>G | XP_011536724.1:p.Gln356Glu | |
| NM_000277.2:c.1123C>G | NP_000268.1:p.Gln375Glu | |
| NM_001354304.1:c.1123C>G | NP_001341233.1:p.Gln375Glu | |
| NM_000277.3:c.1123C>G MANE Select | NP_000268.1:p.Gln375Glu | |
| NM_001354304.2:c.1123C>G | NP_001341233.1:p.Gln375Glu |