Linked Data
ClinVar Variation Id:
362236
ClinVar RCV Id:
RCV000312232
dbSNP Id:
rs367660059
ExAC:
8:145639455 C / G
gnomAD v2:
8-145639455-C-G
gnomAD v4:
8-144414071-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414071C>G , CM000670.2:g.144414071C>G | GRCh38 |
| NC_000008.10:g.145639455C>G , CM000670.1:g.145639455C>G | GRCh37 |
| NC_000008.9:g.145610263C>G | NCBI36 |
| NG_012234.2:g.7820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1174G>C MANE Select | ENSP00000301305.4:p.Glu392Gln | |
| ENST00000276833.9:c.1099G>C | ENSP00000276833.5:p.Glu367Gln | |
| ENST00000301305.7:c.1174G>C | ENSP00000301305.3:p.Glu392Gln | |
| ENST00000531789.1:n.11G>C | ||
| NM_017767.2:c.1099G>C | NP_060237.2:p.Glu367Gln | |
| NM_130849.3:c.1174G>C | NP_570901.2:p.Glu392Gln | |
| XM_006716599.1:c.1174G>C | XP_006716662.1:p.Glu392Gln | |
| XM_011517153.1:c.892G>C | XP_011515455.1:p.Glu298Gln | |
| XM_024447188.1:c.892G>C | XP_024302956.1:p.Glu298Gln | |
| XM_024447189.1:c.892G>C | XP_024302957.1:p.Glu298Gln | |
| NM_001374839.1:c.892G>C | NP_001361768.1:p.Glu298Gln | |
| NM_017767.3:c.1099G>C | NP_060237.3:p.Glu367Gln | |
| NM_130849.4:c.1174G>C MANE Select | NP_570901.3:p.Glu392Gln |