Linked Data
ClinVar Variation Id:
161443
ClinVar RCV Id:
RCV000148946
dbSNP Id:
rs606231467
gnomAD v2:
1-156845920-G-A
gnomAD v3:
1-156876128-G-A
gnomAD v4:
1-156876128-G-A
PubMed:
PMID:25359976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876128G>A , CM000663.2:g.156876128G>A | GRCh38 |
| NC_000001.10:g.156845920G>A , CM000663.1:g.156845920G>A | GRCh37 |
| NC_000001.9:g.155112544G>A | NCBI36 |
| NG_007493.1:g.65379G>A , LRG_261:g.65379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1370G>A | ENSP00000502725.1:p.Gly457Glu | |
| ENST00000392302.7:c.1370G>A | ENSP00000376120.3:p.Gly457Glu | |
| ENST00000497019.7:c.*142G>A | ENSP00000436804.2:n.*142G>A | |
| ENST00000524377.7:c.1550G>A MANE Select | ENSP00000431418.1:p.Gly517Glu | |
| ENST00000674537.1:c.1370G>A | ENSP00000502725.1:p.Gly457Glu | |
| ENST00000358660.3:c.1541G>A | ENSP00000351486.3:p.Gly514Glu | |
| ENST00000368196.7:c.1532G>A | ENSP00000357179.3:p.Gly511Glu | |
| ENST00000392302.6:c.1442G>A | ENSP00000376120.2:p.Gly481Glu | |
| ENST00000497019.6:c.*142G>A | ENSP00000436804.1:n.*142G>A | |
| ENST00000524377.5:c.1550G>A | ENSP00000431418.1:p.Gly517Glu | |
| ENST00000530298.5:n.2003G>A | ||
| ENST00000534682.1:n.773G>A | ||
| NM_001007792.1:c.1442G>A , LRG_261t1:c.1442G>A | NP_001007793.1:p.Gly481Glu | |
| NM_001012331.1:c.1532G>A , LRG_261t2:c.1532G>A | NP_001012331.1:p.Gly511Glu | |
| NM_002529.3:c.1550G>A , LRG_261t3:c.1550G>A | NP_002520.2:p.Gly517Glu | |
| NM_001012331.2:c.1532G>A | NP_001012331.1:p.Gly511Glu | |
| NM_002529.4:c.1550G>A MANE Select | NP_002520.2:p.Gly517Glu |