Linked Data
ClinVar Variation Id:
2081841
dbSNP Id:
rs747476170
ExAC:
19:45855888 C / T
gnomAD v2:
19-45855888-C-T
gnomAD v3:
19-45352630-C-T
gnomAD v4:
19-45352630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352630C>T , CM000681.2:g.45352630C>T | GRCh38 |
| NC_000019.9:g.45855888C>T , CM000681.1:g.45855888C>T | GRCh37 |
| NC_000019.8:g.50547728C>T | NCBI36 |
| NG_007067.2:g.22958G>A , LRG_461:g.22958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1922G>A | ENSP00000375808.4:p.Arg641Gln | |
| ENST00000682414.1:c.1922G>A | ENSP00000507019.1:p.Arg641Gln | |
| ENST00000682508.1:n.1951G>A | ||
| ENST00000684218.1:c.*1180G>A | ENSP00000507804.1:n.*1180G>A | |
| ENST00000684264.1:n.1478G>A | ||
| ENST00000684407.1:c.1799G>A | ENSP00000507775.1:p.Arg600Gln | |
| ENST00000684458.1:c.*408G>A | ENSP00000508260.1:n.*408G>A | |
| ENST00000684468.1:n.1634G>A | ||
| ENST00000391945.10:c.1922G>A MANE Select | ENSP00000375809.4:p.Arg641Gln | |
| ENST00000646507.1:n.2019G>A | ||
| ENST00000391941.6:c.1850G>A | ENSP00000375805.2:p.Arg617Gln | |
| ENST00000391942.6:n.1093G>A | ||
| ENST00000391944.7:c.1688G>A | ENSP00000375808.3:p.Arg563Gln | |
| ENST00000391945.8:c.1922G>A | ENSP00000375809.3:p.Arg641Gln | |
| ENST00000588652.5:n.2010G>A | ||
| NM_000400.3:c.1922G>A , LRG_461t1:c.1922G>A | NP_000391.1:p.Arg641Gln | |
| XM_011526611.1:c.1844G>A | XP_011524913.1:p.Arg615Gln | |
| XM_011526611.2:c.1844G>A | XP_011524913.1:p.Arg615Gln | |
| XM_017026467.1:c.1799G>A | XP_016881956.1:p.Arg600Gln | |
| XR_001753633.2:n.1969G>A | ||
| XR_001753634.2:n.1905G>A | ||
| NM_000400.4:c.1922G>A MANE Select | NP_000391.1:p.Arg641Gln |