Linked Data
ClinVar Variation Id:
242451
dbSNP Id:
rs747143343
ExAC:
11:6415128 A / G
gnomAD v2:
11-6415128-A-G
gnomAD v3:
11-6393898-A-G
gnomAD v4:
11-6393898-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393898A>G , CM000673.2:g.6393898A>G | GRCh38 |
| NC_000011.9:g.6415128A>G , CM000673.1:g.6415128A>G | GRCh37 |
| NC_000011.8:g.6371704A>G | NCBI36 |
| NG_011780.1:g.8474A>G | |
| NG_029615.1:g.30517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1343A>G MANE Select | ENSP00000340409.4:p.Tyr448Cys | |
| ENST00000342245.8:c.1343A>G | ENSP00000340409.4:p.Tyr448Cys | |
| ENST00000526280.1:c.400A>G | ||
| ENST00000527275.5:c.1340A>G | ENSP00000435350.1:p.Tyr447Cys | |
| ENST00000531303.5:c.*174A>G | ENSP00000432625.1:n.*174A>G | |
| ENST00000531336.1:n.175A>G | ||
| ENST00000532367.1:n.179A>G | ||
| ENST00000533123.5:c.*70A>G | ENSP00000435950.1:n.*70A>G | |
| ENST00000534405.5:c.*174A>G | ENSP00000434353.1:n.*174A>G | |
| NM_000543.4:c.1343A>G | NP_000534.3:p.Tyr448Cys | |
| NM_001007593.2:c.1340A>G | NP_001007594.2:p.Tyr447Cys | |
| XM_005253075.3:c.1343A>G | XP_005253132.1:p.Tyr448Cys | |
| XM_011520303.1:c.1211A>G | XP_011518605.1:p.Tyr404Cys | |
| XM_011520304.1:c.1211A>G | XP_011518606.1:p.Tyr404Cys | |
| XR_930886.1:n.1681A>G | ||
| NM_001318087.1:c.1343A>G | NP_001305016.1:p.Tyr448Cys | |
| NM_001318088.1:c.422A>G | NP_001305017.1:p.Tyr141Cys | |
| NM_001365135.1:c.1211A>G | NP_001352064.1:p.Tyr404Cys | |
| NR_027400.2:n.1356A>G | ||
| NR_134502.1:n.875A>G | ||
| XM_011520304.2:c.1211A>G | XP_011518606.1:p.Tyr404Cys | |
| XR_001747940.2:n.1508A>G | ||
| XR_002957158.1:n.1710A>G | ||
| NM_000543.5:c.1343A>G MANE Select | NP_000534.3:p.Tyr448Cys | |
| NM_001007593.3:c.1340A>G | NP_001007594.2:p.Tyr447Cys | |
| NM_001318087.2:c.1343A>G | NP_001305016.1:p.Tyr448Cys | |
| NM_001318088.2:c.422A>G | NP_001305017.1:p.Tyr141Cys | |
| NM_001365135.2:c.1211A>G | NP_001352064.1:p.Tyr404Cys | |
| NR_027400.3:n.1296A>G | ||
| NR_134502.2:n.815A>G |