Linked Data
ClinVar Variation Id:
1918
ClinVar RCV Id:
RCV000001995
dbSNP Id:
rs56047316
ExAC:
1:43296492 G / A
gnomAD v2:
1-43296492-G-A
gnomAD v3:
1-42830821-G-A
gnomAD v4:
1-42830821-G-A
PubMed:
PMID:15660834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42830821G>A , CM000663.2:g.42830821G>A | GRCh38 |
| NC_000001.10:g.43296492G>A , CM000663.1:g.43296492G>A | GRCh37 |
| NC_000001.9:g.43069079G>A | NCBI36 |
| NG_008749.1:g.18717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.139G>A MANE Select | ENSP00000361595.2:p.Glu47Lys | |
| ENST00000487556.6:n.452-4217G>A | ||
| ENST00000642150.1:n.326G>A | ||
| ENST00000647120.1:n.248-4217G>A | ||
| ENST00000328249.3:c.-132G>A | ENSP00000332439.3:n.-132G>A | |
| ENST00000372514.7:c.139G>A | ENSP00000361592.3:p.Glu47Lys | |
| ENST00000372517.6:c.139G>A | ENSP00000361595.2:p.Glu47Lys | |
| ENST00000487556.5:n.247-4217G>A | ||
| NM_001017922.1:c.139G>A | NP_001017922.1:p.Glu47Lys | |
| NM_018538.3:c.139G>A | NP_061008.2:p.Glu47Lys | |
| XM_006710313.2:c.139G>A | XP_006710376.1:p.Glu47Lys | |
| XM_011540570.1:c.139G>A | XP_011538872.1:p.Glu47Lys | |
| XM_011540571.1:c.139G>A | XP_011538873.1:p.Glu47Lys | |
| XM_006710313.4:c.139G>A | XP_006710376.1:p.Glu47Lys | |
| XM_011540570.3:c.139G>A | XP_011538872.1:p.Glu47Lys | |
| XM_011540571.3:c.139G>A | XP_011538873.1:p.Glu47Lys | |
| NM_001017922.2:c.139G>A MANE Select | NP_001017922.1:p.Glu47Lys | |
| NM_018538.4:c.139G>A | NP_061008.2:p.Glu47Lys |