Linked Data
ClinVar Variation Id:
184
dbSNP Id:
rs121964923
ExAC:
8:105440299 T / C
gnomAD v2:
8-105440299-T-C
gnomAD v3:
8-104428071-T-C
gnomAD v4:
8-104428071-T-C
PubMed:
PMID:9718352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104428071T>C , CM000670.2:g.104428071T>C | GRCh38 |
| NC_000008.10:g.105440299T>C , CM000670.1:g.105440299T>C | GRCh37 |
| NC_000008.9:g.105509475T>C | NCBI36 |
| NG_008840.1:g.43979A>G | |
| NG_008840.2:g.43979A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.1001A>G MANE Select | ENSP00000276651.2:p.Gln334Arg | |
| ENST00000351513.6:c.1001A>G | ENSP00000276651.2:p.Gln334Arg | |
| NM_001385.2:c.1001A>G | NP_001376.1:p.Gln334Arg | |
| XM_005250818.2:c.1001A>G | XP_005250875.1:p.Gln334Arg | |
| XM_006716518.2:c.842A>G | XP_006716581.1:p.Gln281Arg | |
| XM_011516903.1:c.1001A>G | XP_011515205.1:p.Gln334Arg | |
| XM_011516904.1:c.1001A>G | XP_011515206.1:p.Gln334Arg | |
| XM_005250818.3:c.1001A>G | XP_005250875.1:p.Gln334Arg | |
| XM_006716518.3:c.842A>G | XP_006716581.1:p.Gln281Arg | |
| XM_011516903.3:c.1001A>G | XP_011515205.1:p.Gln334Arg | |
| XM_017013167.2:c.1001A>G | XP_016868656.1:p.Gln334Arg | |
| XM_024447087.1:c.1001A>G | XP_024302855.1:p.Gln334Arg | |
| XR_001745489.1:n.1155A>G | ||
| XR_001745490.2:n.1155A>G | ||
| NM_001385.3:c.1001A>G MANE Select | NP_001376.1:p.Gln334Arg |