Linked Data
ClinVar Variation Id:
1008783
ClinVar RCV Id:
RCV001306177
dbSNP Id:
rs772291014
ExAC:
16:68729786 G / A
gnomAD v2:
16-68729786-G-A
gnomAD v3:
16-68695883-G-A
gnomAD v4:
16-68695883-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68695883G>A , CM000678.2:g.68695883G>A | GRCh38 |
| NC_000016.9:g.68729786G>A , CM000678.1:g.68729786G>A | GRCh37 |
| NC_000016.8:g.67287287G>A | NCBI36 |
| NG_009096.1:g.56636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.2240G>A MANE Select | ENSP00000264012.4:p.Arg747Gln | |
| ENST00000569080.2:c.59G>A | ENSP00000463415.1:p.Arg20Gln | |
| ENST00000264012.8:c.2240G>A | ENSP00000264012.4:p.Arg747Gln | |
| ENST00000429102.6:c.2240G>A | ENSP00000398485.2:p.Arg747Gln | |
| ENST00000542274.5:c.*1978G>A | ENSP00000464021.1:n.*1978G>A | |
| ENST00000567674.1:c.570G>A | ||
| ENST00000568292.1:c.319G>A | ||
| ENST00000569080.1:c.59G>A | ENSP00000463415.1:p.Arg20Gln | |
| NM_001793.4:c.2240G>A | NP_001784.2:p.Arg747Gln | |
| XM_011522800.1:c.2240G>A | XP_011521102.1:p.Arg747Gln | |
| NM_001317195.1:c.2240G>A | NP_001304124.1:p.Arg747Gln | |
| NM_001317196.1:c.2075G>A | NP_001304125.1:p.Arg692Gln | |
| NM_001793.5:c.2240G>A | NP_001784.2:p.Arg747Gln | |
| XM_011522800.3:c.2240G>A | XP_011521102.1:p.Arg747Gln | |
| NM_001793.6:c.2240G>A MANE Select | NP_001784.2:p.Arg747Gln | |
| NM_001317195.2:c.2240G>A | NP_001304124.1:p.Arg747Gln | |
| NM_001317196.2:c.2075G>A | NP_001304125.1:p.Arg692Gln | |
| NM_001317195.3:c.2240G>A | NP_001304124.1:p.Arg747Gln |