Linked Data
ClinVar Variation Id:
503626
dbSNP Id:
rs905321122
gnomAD v2:
3-182737965-C-A
gnomAD v3:
3-183020177-C-A
gnomAD v4:
3-183020177-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183020177C>A , CM000665.2:g.183020177C>A | GRCh38 |
| NC_000003.11:g.182737965C>A , CM000665.1:g.182737965C>A | GRCh37 |
| NC_000003.10:g.184220659C>A | NCBI36 |
| NG_008100.1:g.84401G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1930G>T MANE Select | ENSP00000265594.4:p.Glu644Ter | |
| ENST00000265594.8:c.1930G>T | ENSP00000265594.4:p.Glu644Ter | |
| ENST00000464601.5:n.362G>T | ||
| ENST00000476176.5:c.1789G>T | ENSP00000420433.1:p.Glu597Ter | |
| ENST00000492597.5:c.1603G>T | ENSP00000419898.1:p.Glu535Ter | |
| ENST00000495767.5:c.*1461G>T | ENSP00000419658.1:n.*1461G>T | |
| ENST00000497830.5:c.*1527G>T | ENSP00000420088.1:n.*1527G>T | |
| ENST00000497959.5:c.*391G>T | ENSP00000420648.1:n.*391G>T | |
| ENST00000539926.5:c.1480G>T | ENSP00000441253.2:p.Glu494Ter | |
| ENST00000610757.4:c.1480G>T | ENSP00000480435.1:p.Glu494Ter | |
| ENST00000629669.2:c.*294G>T | ENSP00000486824.1:n.*294G>T | |
| NM_001293273.1:c.1579G>T | NP_001280202.1:p.Glu527Ter | |
| NM_020166.4:c.1930G>T | NP_064551.3:p.Glu644Ter | |
| NR_120639.1:n.1794G>T | ||
| NR_120640.1:n.2477G>T | ||
| XM_006713702.1:c.1603G>T | XP_006713765.1:p.Glu535Ter | |
| XM_011512992.1:c.1816G>T | XP_011511294.1:p.Glu606Ter | |
| XR_241502.2:n.1860G>T | ||
| NM_001363880.1:c.1603G>T | NP_001350809.1:p.Glu535Ter | |
| XM_011512992.2:c.1816G>T | XP_011511294.1:p.Glu606Ter | |
| XR_001740207.2:n.2150G>T | ||
| XR_001740208.2:n.2003G>T | ||
| XR_001740209.2:n.1756G>T | ||
| XR_001740210.1:n.1833G>T | ||
| XR_241502.3:n.1806G>T | ||
| NM_020166.5:c.1930G>T MANE Select | NP_064551.3:p.Glu644Ter | |
| NM_001293273.2:c.1579G>T | NP_001280202.1:p.Glu527Ter | |
| NR_120639.2:n.1703G>T | ||
| NR_120640.2:n.2477G>T |