Linked Data
ClinVar Variation Id:
1683746
ClinVar RCV Id:
RCV002244267
dbSNP Id:
rs754060575
gnomAD v2:
6-10529702-T-G
gnomAD v3:
6-10529469-T-G
gnomAD v4:
6-10529469-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10529469T>G , CM000668.2:g.10529469T>G | GRCh38 |
| NC_000006.11:g.10529702T>G , CM000668.1:g.10529702T>G | GRCh37 |
| NC_000006.10:g.10637688T>G | NCBI36 |
| NG_007469.3:g.42247T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+628T>G | ||
| ENST00000495262.7:c.558T>G MANE Select | ENSP00000419411.2:p.Tyr186Ter | |
| ENST00000379597.7:c.558T>G | ENSP00000368917.3:p.Tyr186Ter | |
| ENST00000397423.6:n.484+628T>G | ||
| ENST00000410107.5:c.67+20311T>G | ENSP00000386321.1:n.67+20311T>G | |
| ENST00000474518.1:n.508+628T>G | ||
| ENST00000474983.5:n.1135T>G | ||
| ENST00000475577.5:n.254+1809T>G | ||
| ENST00000483204.1:n.1134T>G | ||
| ENST00000489225.5:n.283+36538T>G | ||
| ENST00000489819.5:n.175+7875T>G | ||
| ENST00000495262.5:c.558T>G | ENSP00000419411.1:p.Tyr186Ter | |
| NM_145649.4:c.558T>G | NP_663624.1:p.Tyr186Ter | |
| XM_005248999.2:c.327T>G | XP_005249056.1:p.Tyr109Ter | |
| XM_006715052.2:c.558T>G | XP_006715115.1:p.Tyr186Ter | |
| XM_006715053.2:c.558T>G | XP_006715116.1:p.Tyr186Ter | |
| XM_011514465.1:c.558T>G | XP_011512767.1:p.Tyr186Ter | |
| XM_011514467.1:c.327T>G | XP_011512769.1:p.Tyr109Ter | |
| XM_011514468.1:c.558T>G | XP_011512770.1:p.Tyr186Ter | |
| XR_926136.1:n.1109T>G | ||
| XM_006715052.3:c.558T>G | XP_006715115.1:p.Tyr186Ter | |
| XM_011514468.3:c.558T>G | XP_011512770.1:p.Tyr186Ter | |
| XM_017010732.2:c.558T>G | XP_016866221.1:p.Tyr186Ter | |
| XR_002956275.1:n.1109T>G | ||
| XR_926136.2:n.1107T>G | ||
| NM_001374747.1:c.558T>G | NP_001361676.1:p.Tyr186Ter | |
| NM_145649.5:c.558T>G MANE Select | NP_663624.1:p.Tyr186Ter |