Linked Data
ClinVar Variation Id:
1206329
dbSNP Id:
rs759412116
ExAC:
19:45855468 C / T
gnomAD v2:
19-45855468-C-T
gnomAD v3:
19-45352210-C-T
gnomAD v4:
19-45352210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352210C>T , CM000681.2:g.45352210C>T | GRCh38 |
| NC_000019.9:g.45855468C>T , CM000681.1:g.45855468C>T | GRCh37 |
| NC_000019.8:g.50547308C>T | NCBI36 |
| NG_007067.2:g.23378G>A , LRG_461:g.23378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2189G>A | ENSP00000375808.4:p.Arg730Gln | |
| ENST00000682414.1:c.2189G>A | ENSP00000507019.1:p.Arg730Gln | |
| ENST00000682508.1:n.2218G>A | ||
| ENST00000684218.1:c.*1447G>A | ENSP00000507804.1:n.*1447G>A | |
| ENST00000684264.1:n.1745G>A | ||
| ENST00000684407.1:c.2066G>A | ENSP00000507775.1:p.Arg689Gln | |
| ENST00000684458.1:c.*675G>A | ENSP00000508260.1:n.*675G>A | |
| ENST00000684468.1:n.1901G>A | ||
| ENST00000391945.10:c.2189G>A MANE Select | ENSP00000375809.4:p.Arg730Gln | |
| ENST00000646507.1:n.2286G>A | ||
| ENST00000391941.6:c.2117G>A | ENSP00000375805.2:p.Arg706Gln | |
| ENST00000391942.6:n.1360G>A | ||
| ENST00000391944.7:c.1955G>A | ENSP00000375808.3:p.Arg652Gln | |
| ENST00000391945.8:c.2189G>A | ENSP00000375809.3:p.Arg730Gln | |
| ENST00000588652.5:n.2277G>A | ||
| NM_000400.3:c.2189G>A , LRG_461t1:c.2189G>A | NP_000391.1:p.Arg730Gln | |
| XM_011526611.1:c.2111G>A | XP_011524913.1:p.Arg704Gln | |
| XM_011526611.2:c.2111G>A | XP_011524913.1:p.Arg704Gln | |
| XM_017026467.1:c.2066G>A | XP_016881956.1:p.Arg689Gln | |
| XR_001753633.2:n.2236G>A | ||
| XR_001753634.2:n.2172G>A | ||
| NM_000400.4:c.2189G>A MANE Select | NP_000391.1:p.Arg730Gln |