Linked Data
ClinVar Variation Id:
1060501
ClinVar RCV Id:
RCV002242645
dbSNP Id:
rs1231287887
gnomAD v4:
6-52464982-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52464982T>G , CM000668.2:g.52464982T>G | GRCh38 |
| NC_000006.11:g.52329780T>G , CM000668.1:g.52329780T>G | GRCh37 |
| NC_000006.10:g.52437739T>G | NCBI36 |
| NG_016760.1:g.49787T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1004T>G MANE Select | ENSP00000360107.4:p.Leu335Arg | |
| ENST00000480623.6:c.1004T>G | ENSP00000434498.2:p.Leu335Arg | |
| ENST00000635760.1:c.680T>G | ENSP00000489765.1:p.Leu227Arg | |
| ENST00000635812.1:c.*305T>G | ENSP00000490859.1:n.*305T>G | |
| ENST00000635866.1:c.*873T>G | ENSP00000489866.1:n.*873T>G | |
| ENST00000635911.1:n.2522T>G | ||
| ENST00000635984.1:c.680T>G | ENSP00000489921.1:p.Leu227Arg | |
| ENST00000635996.1:c.1004T>G | ENSP00000490256.1:p.Leu335Arg | |
| ENST00000636107.1:c.1004T>G | ENSP00000489680.1:p.Leu335Arg | |
| ENST00000636311.1:n.898T>G | ||
| ENST00000636343.1:c.670T>G | ||
| ENST00000636379.1:c.716T>G | ENSP00000490622.1:p.Leu239Arg | |
| ENST00000636398.1:c.704T>G | ENSP00000489654.1:n.704T>G | |
| ENST00000636489.1:c.947T>G | ENSP00000489998.1:p.Leu316Arg | |
| ENST00000636616.1:n.620T>G | ||
| ENST00000636702.1:c.974T>G | ENSP00000489623.1:p.Leu325Arg | |
| ENST00000636954.1:c.947T>G | ENSP00000489966.1:p.Leu316Arg | |
| ENST00000637089.1:c.1004T>G | ENSP00000489854.1:p.Leu335Arg | |
| ENST00000637263.1:c.1004T>G | ENSP00000489700.1:p.Leu335Arg | |
| ENST00000637340.1:n.2929T>G | ||
| ENST00000637353.1:c.1004T>G | ENSP00000490441.1:p.Leu335Arg | |
| ENST00000637602.1:c.*705T>G | ENSP00000490074.1:n.*705T>G | |
| ENST00000637849.1:n.1068T>G | ||
| ENST00000637874.1:c.83-4351T>G | ENSP00000490348.1:n.83-4351T>G | |
| ENST00000637892.1:n.1208T>G | ||
| ENST00000371068.9:c.1004T>G | ENSP00000360107.4:p.Leu335Arg | |
| ENST00000480623.5:c.*1424T>G | ENSP00000434498.1:n.*1424T>G | |
| ENST00000538167.2:c.947T>G | ENSP00000444521.1:p.Leu316Arg | |
| NM_001172420.1:c.947T>G | NP_001165891.1:p.Leu316Arg | |
| NM_018100.3:c.1004T>G | NP_060570.2:p.Leu335Arg | |
| NR_033327.1:n.2476T>G | ||
| NM_018100.4:c.1004T>G MANE Select | NP_060570.2:p.Leu335Arg | |
| NM_001172420.2:c.947T>G | NP_001165891.1:p.Leu316Arg | |
| NR_033327.2:n.2330T>G |