Linked Data
ClinVar Variation Id:
260105
dbSNP Id:
rs2303116
ExAC:
19:7706656 C / T
gnomAD v2:
19-7706656-C-T
gnomAD v3:
19-7641770-C-T
gnomAD v4:
19-7641770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7641770C>T , CM000681.2:g.7641770C>T | GRCh38 |
| NC_000019.9:g.7706656C>T , CM000681.1:g.7706656C>T | GRCh37 |
| NC_000019.8:g.7612656C>T | NCBI36 |
| NG_016709.1:g.9666C>T , LRG_165:g.9666C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595866.2:c.*449C>T | ENSP00000469553.2:n.*449C>T | |
| ENST00000600702.6:c.495C>T | ENSP00000471737.2:p.Arg165= | |
| ENST00000698367.1:n.543C>T | ||
| ENST00000698368.1:c.*598C>T | ENSP00000513686.1:n.*598C>T | |
| ENST00000698369.1:n.1645C>T | ||
| ENST00000698370.1:n.302C>T | ||
| ENST00000221283.10:c.495C>T MANE Select | ENSP00000221283.4:p.Arg165= | |
| ENST00000221283.9:c.495C>T | ENSP00000221283.4:p.Arg165= | |
| ENST00000414284.6:c.486C>T | ENSP00000409471.1:p.Arg162= | |
| ENST00000441779.6:c.528C>T | ENSP00000413606.2:p.Arg176= | |
| ENST00000595866.1:c.594C>T | ||
| ENST00000595950.5:c.339C>T | ENSP00000471161.1:p.Arg113= | |
| ENST00000597068.5:c.495C>T | ENSP00000471327.1:p.Arg165= | |
| ENST00000598664.5:c.52-264C>T | ENSP00000472796.1:n.52-264C>T | |
| ENST00000599648.1:n.329C>T | ||
| ENST00000599737.5:c.382-264C>T | ENSP00000471585.1:n.382-264C>T | |
| ENST00000622853.4:c.495C>T | ENSP00000480468.1:p.Arg165= | |
| NM_001127396.2:c.486C>T | NP_001120868.1:p.Arg162= | |
| NM_001272034.1:c.528C>T | NP_001258963.1:p.Arg176= | |
| NM_006949.3:c.495C>T | NP_008880.2:p.Arg165= | |
| NR_073560.1:n.544C>T | ||
| XM_011528210.1:c.495C>T | XP_011526512.1:p.Arg165= | |
| XM_011528211.1:c.495C>T | XP_011526513.1:p.Arg165= | |
| XM_011528212.1:c.495C>T | XP_011526514.1:p.Arg165= | |
| XM_011528213.1:c.495C>T | XP_011526515.1:p.Arg165= | |
| XM_011528210.2:c.495C>T | XP_011526512.1:p.Arg165= | |
| XM_011528212.3:c.495C>T | XP_011526514.1:p.Arg165= | |
| XR_001753741.2:n.533C>T | ||
| NM_006949.4:c.495C>T MANE Select | NP_008880.2:p.Arg165= | |
| NM_001127396.3:c.486C>T | NP_001120868.1:p.Arg162= | |
| NM_001272034.2:c.528C>T | NP_001258963.1:p.Arg176= | |
| NR_073560.2:n.535C>T |