Linked Data
ClinVar Variation Id:
194057
dbSNP Id:
rs780768015
ExAC:
4:159627843 G / A
gnomAD v2:
4-159627843-G-A
gnomAD v3:
4-158706691-G-A
gnomAD v4:
4-158706691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706691G>A , CM000666.2:g.158706691G>A | GRCh38 |
| NC_000004.11:g.159627843G>A , CM000666.1:g.159627843G>A | GRCh37 |
| NC_000004.10:g.159847293G>A | NCBI36 |
| NG_007078.2:g.39350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3067G>A | ||
| ENST00000682178.1:n.2563G>A | ||
| ENST00000682345.1:c.*1231G>A | ENSP00000508122.1:n.*1231G>A | |
| ENST00000682452.1:n.1862G>A | ||
| ENST00000682456.1:c.1390G>A | ENSP00000508240.1:p.Asp464Asn | |
| ENST00000682566.1:n.2314G>A | ||
| ENST00000682613.1:n.1843G>A | ||
| ENST00000682734.1:c.358G>A | ENSP00000507860.1:p.Asp120Asn | |
| ENST00000682820.1:n.1568G>A | ||
| ENST00000683004.1:c.*1224G>A | ENSP00000506936.1:n.*1224G>A | |
| ENST00000683079.1:c.*956G>A | ENSP00000507296.1:n.*956G>A | |
| ENST00000683081.1:c.*1368G>A | ENSP00000507722.1:n.*1368G>A | |
| ENST00000683181.1:n.810G>A | ||
| ENST00000683209.1:n.3857G>A | ||
| ENST00000683305.1:c.1348G>A | ENSP00000508043.1:p.Asp450Asn | |
| ENST00000683448.1:c.*451G>A | ENSP00000506931.1:n.*451G>A | |
| ENST00000683478.1:c.*882G>A | ENSP00000507793.1:n.*882G>A | |
| ENST00000683483.1:c.1387G>A | ENSP00000507719.1:p.Asp463Asn | |
| ENST00000683622.1:n.1245G>A | ||
| ENST00000683751.1:c.1036G>A | ENSP00000506944.1:p.Asp346Asn | |
| ENST00000684036.1:c.1348G>A | ENSP00000507276.1:p.Asp450Asn | |
| ENST00000684129.1:c.358G>A | ENSP00000507174.1:p.Asp120Asn | |
| ENST00000684209.1:n.1906G>A | ||
| ENST00000684296.1:c.*451G>A | ENSP00000507740.1:n.*451G>A | |
| ENST00000684505.1:c.1480G>A | ENSP00000508237.1:p.Asp494Asn | |
| ENST00000684552.1:c.*2950G>A | ENSP00000506899.1:n.*2950G>A | |
| ENST00000684611.1:n.3259G>A | ||
| ENST00000684622.1:c.1531G>A | ENSP00000507546.1:p.Asp511Asn | |
| ENST00000684627.1:c.1348G>A | ENSP00000507471.1:p.Asp450Asn | |
| ENST00000684641.1:c.1246G>A | ENSP00000507642.1:p.Asp416Asn | |
| ENST00000684675.1:c.*378G>A | ENSP00000506934.1:n.*378G>A | |
| ENST00000684749.1:n.1600G>A | ||
| ENST00000511912.6:c.1531G>A MANE Select | ENSP00000426638.1:p.Asp511Asn | |
| ENST00000307738.5:c.1390G>A | ENSP00000303552.5:p.Asp464Asn | |
| ENST00000506422.1:n.501G>A | ||
| ENST00000511912.5:c.1531G>A | ENSP00000426638.1:p.Asp511Asn | |
| NM_001281737.1:c.1390G>A | NP_001268666.1:p.Asp464Asn | |
| NM_001281738.1:c.1348G>A | NP_001268667.1:p.Asp450Asn | |
| NM_004453.3:c.1531G>A | NP_004444.2:p.Asp511Asn | |
| XM_024453935.1:c.1348G>A | XP_024309703.1:p.Asp450Asn | |
| NM_004453.4:c.1531G>A MANE Select | NP_004444.2:p.Asp511Asn | |
| NM_001281737.2:c.1390G>A | NP_001268666.1:p.Asp464Asn |