Linked Data
ClinVar Variation Id:
782962
ClinVar RCV Id:
RCV000964433
dbSNP Id:
rs141923065
ExAC:
16:31474091 A / G
gnomAD v2:
16-31474091-A-G
gnomAD v3:
16-31462770-A-G
gnomAD v4:
16-31462770-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462770A>G , CM000678.2:g.31462770A>G | GRCh38 |
| NC_000016.9:g.31474091A>G , CM000678.1:g.31474091A>G | GRCh37 |
| NC_000016.8:g.31381592A>G | NCBI36 |
| NG_034258.1:g.9498A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268314.9:c.1223A>G MANE Select | ENSP00000268314.4:p.Gln408Arg | |
| ENST00000268314.8:c.1223A>G | ENSP00000268314.4:p.Gln408Arg | |
| ENST00000408912.7:c.1508A>G | ENSP00000386125.3:p.Gln503Arg | |
| ENST00000457010.6:c.1223A>G | ENSP00000399561.2:p.Gln408Arg | |
| ENST00000538189.5:c.731A>G | ENSP00000443995.2:p.Gln244Arg | |
| ENST00000563544.5:c.1223A>G | ENSP00000456877.1:p.Gln408Arg | |
| ENST00000564900.1:c.213-2A>G | ||
| NM_001105247.1:c.1223A>G | NP_001098717.1:p.Gln408Arg | |
| NM_001288767.1:c.1508A>G | NP_001275696.1:p.Gln503Arg | |
| NM_001301820.1:c.1319A>G | NP_001288749.1:p.Gln440Arg | |
| NM_024742.2:c.1223A>G | NP_079018.1:p.Gln408Arg | |
| XM_006721091.1:c.1319A>G | XP_006721154.1:p.Gln440Arg | |
| XM_006721091.3:c.1319A>G | XP_006721154.1:p.Gln440Arg | |
| XM_024450448.1:c.1319A>G | XP_024306216.1:p.Gln440Arg | |
| XM_024450449.1:c.1319A>G | XP_024306217.1:p.Gln440Arg | |
| NM_001105247.2:c.1223A>G MANE Select | NP_001098717.1:p.Gln408Arg | |
| NM_001288767.2:c.1508A>G | NP_001275696.1:p.Gln503Arg |