Linked Data
ClinVar Variation Id:
205412
ClinVar RCV Id:
RCV000187370
dbSNP Id:
rs534797617
ExAC:
6:52344010 A / G
gnomAD v2:
6-52344010-A-G
gnomAD v3:
6-52479212-A-G
gnomAD v4:
6-52479212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479212A>G , CM000668.2:g.52479212A>G | GRCh38 |
| NC_000006.11:g.52344010A>G , CM000668.1:g.52344010A>G | GRCh37 |
| NC_000006.10:g.52451969A>G | NCBI36 |
| NG_016760.1:g.64017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1454A>G MANE Select | ENSP00000360107.4:p.Tyr485Cys | |
| ENST00000480623.6:c.1454A>G | ENSP00000434498.2:p.Tyr485Cys | |
| ENST00000635760.1:c.1130A>G | ENSP00000489765.1:p.Tyr377Cys | |
| ENST00000635812.1:c.*755A>G | ENSP00000490859.1:n.*755A>G | |
| ENST00000635866.1:c.*1323A>G | ENSP00000489866.1:n.*1323A>G | |
| ENST00000635911.1:n.2972A>G | ||
| ENST00000635984.1:c.1130A>G | ENSP00000489921.1:p.Tyr377Cys | |
| ENST00000635996.1:c.1454A>G | ENSP00000490256.1:p.Tyr485Cys | |
| ENST00000636107.1:c.1454A>G | ENSP00000489680.1:p.Tyr485Cys | |
| ENST00000636311.1:n.1348A>G | ||
| ENST00000636343.1:c.1120A>G | ||
| ENST00000636379.1:c.1166A>G | ENSP00000490622.1:p.Tyr389Cys | |
| ENST00000636398.1:c.1154A>G | ENSP00000489654.1:n.1154A>G | |
| ENST00000636489.1:c.1397A>G | ENSP00000489998.1:p.Tyr466Cys | |
| ENST00000636616.1:n.1015A>G | ||
| ENST00000636702.1:c.1424A>G | ENSP00000489623.1:p.Tyr475Cys | |
| ENST00000636954.1:c.1397A>G | ENSP00000489966.1:p.Tyr466Cys | |
| ENST00000637089.1:c.1454A>G | ENSP00000489854.1:p.Tyr485Cys | |
| ENST00000637121.1:n.1256A>G | ||
| ENST00000637263.1:c.1454A>G | ENSP00000489700.1:p.Tyr485Cys | |
| ENST00000637340.1:n.3379A>G | ||
| ENST00000637353.1:c.1454A>G | ENSP00000490441.1:p.Tyr485Cys | |
| ENST00000637602.1:c.*1155A>G | ENSP00000490074.1:n.*1155A>G | |
| ENST00000637849.1:n.1518A>G | ||
| ENST00000637874.1:c.399A>G | ENSP00000490348.1:n.399A>G | |
| ENST00000637892.1:n.1658A>G | ||
| ENST00000371068.9:c.1454A>G | ENSP00000360107.4:p.Tyr485Cys | |
| ENST00000480623.5:c.*1874A>G | ENSP00000434498.1:n.*1874A>G | |
| ENST00000538167.2:c.1397A>G | ENSP00000444521.1:p.Tyr466Cys | |
| NM_001172420.1:c.1397A>G | NP_001165891.1:p.Tyr466Cys | |
| NM_018100.3:c.1454A>G | NP_060570.2:p.Tyr485Cys | |
| NR_033327.1:n.2926A>G | ||
| NM_018100.4:c.1454A>G MANE Select | NP_060570.2:p.Tyr485Cys | |
| NM_001172420.2:c.1397A>G | NP_001165891.1:p.Tyr466Cys | |
| NR_033327.2:n.2780A>G |