Linked Data
ClinVar Variation Id:
205414
dbSNP Id:
rs149998588
ExAC:
6:52344557 C / T
gnomAD v2:
6-52344557-C-T
gnomAD v3:
6-52479759-C-T
gnomAD v4:
6-52479759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479759C>T , CM000668.2:g.52479759C>T | GRCh38 |
| NC_000006.11:g.52344557C>T , CM000668.1:g.52344557C>T | GRCh37 |
| NC_000006.10:g.52452516C>T | NCBI36 |
| NG_016760.1:g.64564C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371068.11:c.1612C>T MANE Select | ENSP00000360107.4:p.Arg538Ter | |
| ENST00000480623.6:c.1612C>T | ENSP00000434498.2:p.Arg538Ter | |
| ENST00000635760.1:c.1288C>T | ENSP00000489765.1:p.Arg430Ter | |
| ENST00000635812.1:c.*913C>T | ENSP00000490859.1:n.*913C>T | |
| ENST00000635866.1:c.*1481C>T | ENSP00000489866.1:n.*1481C>T | |
| ENST00000635911.1:n.3130C>T | ||
| ENST00000635984.1:c.1288C>T | ENSP00000489921.1:p.Arg430Ter | |
| ENST00000635996.1:c.1612C>T | ENSP00000490256.1:p.Arg538Ter | |
| ENST00000636107.1:c.1612C>T | ENSP00000489680.1:p.Arg538Ter | |
| ENST00000636311.1:n.1506C>T | ||
| ENST00000636343.1:c.1278C>T | ||
| ENST00000636379.1:c.1324C>T | ENSP00000490622.1:p.Arg442Ter | |
| ENST00000636398.1:c.1312C>T | ENSP00000489654.1:n.1312C>T | |
| ENST00000636489.1:c.1555C>T | ENSP00000489998.1:p.Arg519Ter | |
| ENST00000636616.1:n.1173C>T | ||
| ENST00000636702.1:c.1582C>T | ENSP00000489623.1:p.Arg528Ter | |
| ENST00000636954.1:c.1555C>T | ENSP00000489966.1:p.Arg519Ter | |
| ENST00000637089.1:c.1612C>T | ENSP00000489854.1:p.Arg538Ter | |
| ENST00000637121.1:n.1414C>T | ||
| ENST00000637263.1:c.1612C>T | ENSP00000489700.1:p.Arg538Ter | |
| ENST00000637340.1:n.3537C>T | ||
| ENST00000637353.1:c.1612C>T | ENSP00000490441.1:p.Arg538Ter | |
| ENST00000637602.1:c.*1313C>T | ENSP00000490074.1:n.*1313C>T | |
| ENST00000637849.1:n.1676C>T | ||
| ENST00000637892.1:n.1816C>T | ||
| ENST00000371068.9:c.1612C>T | ENSP00000360107.4:p.Arg538Ter | |
| ENST00000480623.5:c.*2032C>T | ENSP00000434498.1:n.*2032C>T | |
| ENST00000538167.2:c.1555C>T | ENSP00000444521.1:p.Arg519Ter | |
| NM_001172420.1:c.1555C>T | NP_001165891.1:p.Arg519Ter | |
| NM_018100.3:c.1612C>T | NP_060570.2:p.Arg538Ter | |
| NR_033327.1:n.3084C>T | ||
| NM_018100.4:c.1612C>T MANE Select | NP_060570.2:p.Arg538Ter | |
| NM_001172420.2:c.1555C>T | NP_001165891.1:p.Arg519Ter | |
| NR_033327.2:n.2938C>T |