Linked Data
ClinVar Variation Id:
1437868
ClinVar RCV Id:
RCV001957699
dbSNP Id:
rs756966886
ExAC:
8:30924679 A / G
gnomAD v2:
8-30924679-A-G
gnomAD v3:
8-31067163-A-G
gnomAD v4:
8-31067163-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067163A>G , CM000670.2:g.31067163A>G | GRCh38 |
| NC_000008.10:g.30924679A>G , CM000670.1:g.30924679A>G | GRCh37 |
| NC_000008.9:g.31044221A>G | NCBI36 |
| NG_008870.1:g.38902A>G , LRG_524:g.38902A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.635A>G MANE Select | ENSP00000298139.5:p.Tyr212Cys | |
| ENST00000650667.1:c.*249A>G | ENSP00000498593.1:n.*249A>G | |
| ENST00000298139.5:c.635A>G | ENSP00000298139.5:p.Tyr212Cys | |
| NM_000553.4:c.635A>G , LRG_524t1:c.635A>G | NP_000544.2:p.Tyr212Cys | |
| XM_011544639.1:c.635A>G | XP_011542941.1:p.Tyr212Cys | |
| XR_949470.1:n.908A>G | ||
| XR_949471.1:n.908A>G | ||
| XR_949472.1:n.908A>G | ||
| NM_000553.5:c.635A>G | NP_000544.2:p.Tyr212Cys | |
| XM_011544639.3:c.635A>G | XP_011542941.1:p.Tyr212Cys | |
| XM_024447265.1:c.425A>G | XP_024303033.1:p.Tyr142Cys | |
| XR_949470.3:n.936A>G | ||
| XR_949471.3:n.936A>G | ||
| XR_949472.3:n.936A>G | ||
| NM_000553.6:c.635A>G MANE Select | NP_000544.2:p.Tyr212Cys |