Linked Data
ClinVar Variation Id:
142730
ClinVar RCV Id:
RCV002512549
dbSNP Id:
rs587782677
gnomAD v4:
16-68801859-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801859C>G , CM000678.2:g.68801859C>G | GRCh38 |
| NC_000016.9:g.68835762C>G , CM000678.1:g.68835762C>G | GRCh37 |
| NC_000016.8:g.67393263C>G | NCBI36 |
| NG_008021.1:g.69568C>G , LRG_301:g.69568C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.353C>G MANE Select | ENSP00000261769.4:p.Thr118Arg | |
| ENST00000261769.9:c.353C>G | ENSP00000261769.4:p.Thr118Arg | |
| ENST00000422392.6:c.353C>G | ENSP00000414946.2:p.Thr118Arg | |
| ENST00000561751.1:c.120C>G | ||
| ENST00000562836.5:n.424C>G | ||
| ENST00000564676.5:n.635C>G | ||
| ENST00000564745.1:n.348C>G | ||
| ENST00000566510.5:c.353C>G | ENSP00000458139.1:p.Thr118Arg | |
| ENST00000566612.5:c.353C>G | ENSP00000454782.1:p.Thr118Arg | |
| ENST00000611625.4:c.353C>G | ENSP00000481063.1:p.Thr118Arg | |
| ENST00000612417.4:c.353C>G | ENSP00000478360.1:p.Thr118Arg | |
| ENST00000621016.4:c.353C>G | ENSP00000480664.1:p.Thr118Arg | |
| NM_004360.3:c.353C>G , LRG_301t1:c.353C>G | NP_004351.1:p.Thr118Arg | |
| XM_011523488.1:c.-383C>G | XP_011521790.1:n.-383C>G | |
| XM_011523489.1:c.-383C>G | XP_011521791.1:n.-383C>G | |
| NM_001317184.1:c.353C>G | NP_001304113.1:p.Thr118Arg | |
| NM_001317185.1:c.-1263C>G | NP_001304114.1:n.-1263C>G | |
| NM_001317186.1:c.-1467C>G | NP_001304115.1:n.-1467C>G | |
| NM_004360.4:c.353C>G | NP_004351.1:p.Thr118Arg | |
| NM_004360.5:c.353C>G MANE Select | NP_004351.1:p.Thr118Arg | |
| NM_001317184.2:c.353C>G | NP_001304113.1:p.Thr118Arg | |
| NM_001317185.2:c.-1263C>G | NP_001304114.1:n.-1263C>G | |
| NM_001317186.2:c.-1467C>G | NP_001304115.1:n.-1467C>G |