Linked Data
ClinVar Variation Id:
2255019
ClinVar RCV Id:
RCV002807551
dbSNP Id:
rs887798958
gnomAD v2:
6-10529761-A-G
gnomAD v3:
6-10529528-A-G
gnomAD v4:
6-10529528-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10529528A>G , CM000668.2:g.10529528A>G | GRCh38 |
| NC_000006.11:g.10529761A>G , CM000668.1:g.10529761A>G | GRCh37 |
| NC_000006.10:g.10637747A>G | NCBI36 |
| NG_007469.3:g.42306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+687A>G | ||
| ENST00000495262.7:c.617A>G MANE Select | ENSP00000419411.2:p.Tyr206Cys | |
| ENST00000379597.7:c.617A>G | ENSP00000368917.3:p.Tyr206Cys | |
| ENST00000397423.6:n.484+687A>G | ||
| ENST00000410107.5:c.67+20370A>G | ENSP00000386321.1:n.67+20370A>G | |
| ENST00000474518.1:n.508+687A>G | ||
| ENST00000474983.5:n.1194A>G | ||
| ENST00000475577.5:n.254+1868A>G | ||
| ENST00000483204.1:n.1193A>G | ||
| ENST00000489225.5:n.283+36597A>G | ||
| ENST00000489819.5:n.175+7934A>G | ||
| ENST00000495262.5:c.617A>G | ENSP00000419411.1:p.Tyr206Cys | |
| NM_145649.4:c.617A>G | NP_663624.1:p.Tyr206Cys | |
| XM_005248999.2:c.386A>G | XP_005249056.1:p.Tyr129Cys | |
| XM_006715052.2:c.617A>G | XP_006715115.1:p.Tyr206Cys | |
| XM_006715053.2:c.617A>G | XP_006715116.1:p.Tyr206Cys | |
| XM_011514465.1:c.617A>G | XP_011512767.1:p.Tyr206Cys | |
| XM_011514467.1:c.386A>G | XP_011512769.1:p.Tyr129Cys | |
| XM_011514468.1:c.617A>G | XP_011512770.1:p.Tyr206Cys | |
| XR_926136.1:n.1168A>G | ||
| XM_006715052.3:c.617A>G | XP_006715115.1:p.Tyr206Cys | |
| XM_011514468.3:c.617A>G | XP_011512770.1:p.Tyr206Cys | |
| XM_017010732.2:c.617A>G | XP_016866221.1:p.Tyr206Cys | |
| XR_002956275.1:n.1168A>G | ||
| XR_926136.2:n.1166A>G | ||
| NM_001374747.1:c.617A>G | NP_001361676.1:p.Tyr206Cys | |
| NM_145649.5:c.617A>G MANE Select | NP_663624.1:p.Tyr206Cys |