Linked Data
ClinVar Variation Id:
126758
dbSNP Id:
rs138789658
ExAC:
16:23649446 T / C
gnomAD v2:
16-23649446-T-C
gnomAD v3:
16-23638125-T-C
gnomAD v4:
16-23638125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23638125T>C , CM000678.2:g.23638125T>C | GRCh38 |
| NC_000016.9:g.23649446T>C , CM000678.1:g.23649446T>C | GRCh37 |
| NC_000016.8:g.23556947T>C | NCBI36 |
| NG_007406.1:g.8233A>G , LRG_308:g.8233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.59A>G | ENSP00000460666.3:p.Lys20Arg | |
| ENST00000565038.2:c.53A>G | ENSP00000459882.2:p.Lys18Arg | |
| ENST00000566069.6:c.53A>G | ENSP00000459237.2:p.Lys18Arg | |
| ENST00000697377.2:c.59A>G | ENSP00000513286.2:p.Lys20Arg | |
| ENST00000697379.2:c.59A>G | ENSP00000513287.2:p.Lys20Arg | |
| ENST00000561514.2:c.-833A>G | ENSP00000460666.2:n.-833A>G | |
| ENST00000697374.1:c.-833A>G | ENSP00000513284.1:n.-833A>G | |
| ENST00000697375.1:n.1400A>G | ||
| ENST00000697376.1:c.-869A>G | ENSP00000513285.1:n.-869A>G | |
| ENST00000697377.1:c.-833A>G | ENSP00000513286.1:n.-833A>G | |
| ENST00000697378.1:n.573A>G | ||
| ENST00000697379.1:c.-833A>G | ENSP00000513287.1:n.-833A>G | |
| ENST00000697382.1:c.-833A>G | ENSP00000513288.1:n.-833A>G | |
| ENST00000697383.1:c.48+2985A>G | ENSP00000513289.1:n.48+2985A>G | |
| ENST00000697384.1:n.207A>G | ||
| ENST00000261584.9:c.53A>G MANE Select | ENSP00000261584.4:p.Lys18Arg | |
| ENST00000261584.8:c.53A>G | ENSP00000261584.4:p.Lys18Arg | |
| ENST00000561514.1:c.59A>G | ENSP00000460666.1:p.Lys20Arg | |
| ENST00000567003.1:n.331A>G | ||
| ENST00000568219.5:c.-833A>G | ENSP00000454703.2:n.-833A>G | |
| NM_024675.3:c.53A>G , LRG_308t1:c.53A>G | NP_078951.2:p.Lys18Arg | |
| XM_011545946.1:c.59A>G | XP_011544248.1:p.Lys20Arg | |
| XM_011545947.1:c.59A>G | XP_011544249.1:p.Lys20Arg | |
| XM_011545948.1:c.-833A>G | XP_011544250.1:n.-833A>G | |
| XR_950851.1:n.849A>G | ||
| XM_011545946.2:c.59A>G | XP_011544248.1:p.Lys20Arg | |
| XM_011545947.2:c.59A>G | XP_011544249.1:p.Lys20Arg | |
| XM_011545948.2:c.-833A>G | XP_011544250.1:n.-833A>G | |
| XM_017023671.1:c.59A>G | XP_016879160.1:p.Lys20Arg | |
| XM_017023672.2:c.53A>G | XP_016879161.1:p.Lys18Arg | |
| XM_017023673.2:c.53A>G | XP_016879162.1:p.Lys18Arg | |
| NM_024675.4:c.53A>G MANE Select | NP_078951.2:p.Lys18Arg |