Linked Data
ClinVar Variation Id:
418887
dbSNP Id:
rs144901788
ExAC:
1:156845431 G / A
gnomAD v2:
1-156845431-G-A
gnomAD v3:
1-156875639-G-A
gnomAD v4:
1-156875639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875639G>A , CM000663.2:g.156875639G>A | GRCh38 |
| NC_000001.10:g.156845431G>A , CM000663.1:g.156845431G>A | GRCh37 |
| NC_000001.9:g.155112055G>A | NCBI36 |
| NG_007493.1:g.64890G>A , LRG_261:g.64890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1294G>A | ENSP00000502725.1:p.Glu432Lys | |
| ENST00000392302.7:c.1294G>A | ENSP00000376120.3:p.Glu432Lys | |
| ENST00000497019.7:c.*66G>A | ENSP00000436804.2:n.*66G>A | |
| ENST00000524377.7:c.1474G>A MANE Select | ENSP00000431418.1:p.Glu492Lys | |
| ENST00000674537.1:c.1294G>A | ENSP00000502725.1:p.Glu432Lys | |
| ENST00000358660.3:c.1456G>A | ENSP00000351486.3:p.Glu486Lys | |
| ENST00000368196.7:c.1456G>A | ENSP00000357179.3:p.Glu486Lys | |
| ENST00000392302.6:c.1366G>A | ENSP00000376120.2:p.Glu456Lys | |
| ENST00000497019.6:c.*66G>A | ENSP00000436804.1:n.*66G>A | |
| ENST00000524377.5:c.1474G>A | ENSP00000431418.1:p.Glu492Lys | |
| ENST00000530298.5:n.1514G>A | ||
| ENST00000534682.1:n.697G>A | ||
| NM_001007792.1:c.1366G>A , LRG_261t1:c.1366G>A | NP_001007793.1:p.Glu456Lys | |
| NM_001012331.1:c.1456G>A , LRG_261t2:c.1456G>A | NP_001012331.1:p.Glu486Lys | |
| NM_002529.3:c.1474G>A , LRG_261t3:c.1474G>A | NP_002520.2:p.Glu492Lys | |
| NM_001012331.2:c.1456G>A | NP_001012331.1:p.Glu486Lys | |
| NM_002529.4:c.1474G>A MANE Select | NP_002520.2:p.Glu492Lys |