Linked Data
ClinVar Variation Id:
297155
dbSNP Id:
rs753211165
ExAC:
1:33251995 A / C
gnomAD v2:
1-33251995-A-C
gnomAD v3:
1-32786394-A-C
gnomAD v4:
1-32786394-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32786394A>C , CM000663.2:g.32786394A>C | GRCh38 |
| NC_000001.10:g.33251995A>C , CM000663.1:g.33251995A>C | GRCh37 |
| NC_000001.9:g.33024582A>C | NCBI36 |
| NG_008408.1:g.36639T>G , LRG_273:g.36639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.727T>G | ENSP00000502019.1:p.Tyr243Asp | |
| ENST00000373477.9:c.874T>G MANE Select | ENSP00000362576.4:p.Tyr292Asp | |
| ENST00000481895.6:c.*1441T>G | ENSP00000502016.1:n.*1441T>G | |
| ENST00000616261.2:c.*243T>G | ENSP00000484192.2:n.*243T>G | |
| ENST00000674629.1:c.*422T>G | ENSP00000502470.1:n.*422T>G | |
| ENST00000674654.1:c.*834T>G | ENSP00000501729.1:n.*834T>G | |
| ENST00000675785.1:c.727T>G | ENSP00000502019.1:p.Tyr243Asp | |
| ENST00000676297.1:c.*1048T>G | ENSP00000501596.1:n.*1048T>G | |
| ENST00000373477.8:c.874T>G | ENSP00000362576.4:p.Tyr292Asp | |
| ENST00000478828.1:n.341T>G | ||
| ENST00000481895.5:n.994T>G | ||
| ENST00000616261.1:c.874T>G | ENSP00000484192.1:p.Tyr292Asp | |
| NM_003680.3:c.874T>G , LRG_273t1:c.874T>G | NP_003671.1:p.Tyr292Asp | |
| XM_011542347.1:c.244T>G | XP_011540649.1:p.Tyr82Asp | |
| XM_011542348.1:c.244T>G | XP_011540650.1:p.Tyr82Asp | |
| XM_011542347.2:c.244T>G | XP_011540649.1:p.Tyr82Asp | |
| XM_017002651.2:c.244T>G | XP_016858140.1:p.Tyr82Asp | |
| NM_003680.4:c.874T>G MANE Select | NP_003671.1:p.Tyr292Asp |