Linked Data
ClinVar Variation Id:
957806
ClinVar RCV Id:
RCV001230857
dbSNP Id:
rs1811945936
gnomAD v3:
8-43122651-A-G
gnomAD v4:
8-43122651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122651A>G , CM000670.2:g.43122651A>G | GRCh38 |
| NC_000008.10:g.42977794A>G , CM000670.1:g.42977794A>G | GRCh37 |
| NC_000008.9:g.43096951A>G | NCBI36 |
| NG_033235.1:g.34146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.827A>G MANE Select | ENSP00000331258.5:p.Tyr276Cys | |
| ENST00000614426.2:c.*623A>G | ENSP00000478821.2:n.*623A>G | |
| ENST00000674646.1:c.545A>G | ENSP00000501703.1:p.Tyr182Cys | |
| ENST00000674676.1:c.545A>G | ENSP00000502544.1:p.Tyr182Cys | |
| ENST00000674782.1:c.*747A>G | ENSP00000501683.1:n.*747A>G | |
| ENST00000674937.1:c.785A>G | ENSP00000501823.1:p.Tyr262Cys | |
| ENST00000675322.1:c.545A>G | ENSP00000502235.1:p.Tyr182Cys | |
| ENST00000675675.1:c.545A>G | ENSP00000501793.1:p.Tyr182Cys | |
| ENST00000676178.1:c.*612A>G | ENSP00000502007.1:n.*612A>G | |
| ENST00000676193.1:c.827A>G | ENSP00000502774.1:p.Tyr276Cys | |
| ENST00000331373.9:c.827A>G | ENSP00000331258.5:p.Tyr276Cys | |
| ENST00000614426.1:c.827A>G | ENSP00000478821.1:p.Tyr276Cys | |
| NM_001277971.1:c.827A>G | NP_001264900.1:p.Tyr276Cys | |
| NM_032237.4:c.827A>G | NP_115613.1:p.Tyr276Cys | |
| XM_011544668.1:c.827A>G | XP_011542970.1:p.Tyr276Cys | |
| XM_011544669.1:c.827A>G | XP_011542971.1:p.Tyr276Cys | |
| NM_032237.5:c.827A>G MANE Select | NP_115613.1:p.Tyr276Cys | |
| NM_001277971.2:c.827A>G | NP_001264900.1:p.Tyr276Cys |