Linked Data
ClinVar Variation Id:
321198
dbSNP Id:
rs138555898
ExAC:
16:88898407 T / C
gnomAD v2:
16-88898407-T-C
gnomAD v3:
16-88831999-T-C
gnomAD v4:
16-88831999-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88831999T>C , CM000678.2:g.88831999T>C | GRCh38 |
| NC_000016.9:g.88898407T>C , CM000678.1:g.88898407T>C | GRCh37 |
| NC_000016.8:g.87425908T>C | NCBI36 |
| NG_008667.1:g.29968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1001A>G MANE Select | ENSP00000268695.5:p.Gln334Arg | |
| ENST00000268695.9:c.1001A>G | ENSP00000268695.5:p.Gln334Arg | |
| ENST00000562593.5:n.4410A>G | ||
| ENST00000567525.5:c.682A>G | ENSP00000454484.1:n.682A>G | |
| ENST00000568613.5:c.1120A>G | ENSP00000457921.1:n.1120A>G | |
| NM_000512.4:c.1001A>G | NP_000503.1:p.Gln334Arg | |
| XM_005256301.2:c.1001A>G | XP_005256358.1:p.Gln334Arg | |
| XM_005256302.1:c.1019A>G | XP_005256359.1:p.Gln340Arg | |
| XM_011522982.1:c.1019A>G | XP_011521284.1:p.Gln340Arg | |
| XM_011522984.1:c.1019A>G | XP_011521286.1:p.Gln340Arg | |
| NM_001323543.1:c.446A>G | NP_001310472.1:p.Gln149Arg | |
| NM_001323544.1:c.1019A>G | NP_001310473.1:p.Gln340Arg | |
| XM_005256301.3:c.1001A>G | XP_005256358.1:p.Gln334Arg | |
| XM_011522982.2:c.1019A>G | XP_011521284.1:p.Gln340Arg | |
| XM_017023111.2:c.1019A>G | XP_016878600.1:p.Gln340Arg | |
| XM_017023112.2:c.1019A>G | XP_016878601.1:p.Gln340Arg | |
| XM_017023113.1:c.446A>G | XP_016878602.1:p.Gln149Arg | |
| NM_000512.5:c.1001A>G MANE Select | NP_000503.1:p.Gln334Arg | |
| NM_001323543.2:c.446A>G | NP_001310472.1:p.Gln149Arg | |
| NM_001323544.2:c.1019A>G | NP_001310473.1:p.Gln340Arg |