Linked Data
ClinVar Variation Id:
197172
dbSNP Id:
rs147003118
ExAC:
6:116950775 G / C
gnomAD v2:
6-116950775-G-C
gnomAD v3:
6-116629612-G-C
gnomAD v4:
6-116629612-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116629612G>C , CM000668.2:g.116629612G>C | GRCh38 |
| NC_000006.11:g.116950775G>C , CM000668.1:g.116950775G>C | GRCh37 |
| NC_000006.10:g.117057468G>C | NCBI36 |
| NG_012934.1:g.18134G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1708G>C MANE Select | ENSP00000229554.5:p.Glu570Gln | |
| ENST00000229554.9:c.1708G>C | ENSP00000229554.5:p.Glu570Gln | |
| ENST00000368580.4:c.967G>C | ENSP00000357569.4:p.Glu323Gln | |
| ENST00000368581.8:c.1663-823G>C | ENSP00000357570.4:n.1663-823G>C | |
| NM_001010892.2:c.1708G>C | NP_001010892.1:p.Glu570Gln | |
| NM_001161664.1:c.1663-823G>C | NP_001155136.1:n.1663-823G>C | |
| XM_006715469.2:c.1708G>C | XP_006715532.1:p.Glu570Gln | |
| XM_011535791.1:c.1708G>C | XP_011534093.1:p.Glu570Gln | |
| XM_011535792.1:c.1708G>C | XP_011534094.1:p.Glu570Gln | |
| XR_942416.1:n.4359G>C | ||
| XM_017010826.1:c.1663-823G>C | XP_016866315.1:n.1663-823G>C | |
| NM_001010892.3:c.1708G>C MANE Select | NP_001010892.1:p.Glu570Gln | |
| NM_001161664.2:c.1663-823G>C | NP_001155136.1:n.1663-823G>C |