Linked Data
ClinVar Variation Id:
133061
dbSNP Id:
rs193922868
ExAC:
19:39068595 G / A
gnomAD v2:
19-39068595-G-A
gnomAD v4:
19-38577955-G-A
ERepo:
CA024118/MONDO:0018493/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38577955G>A , CM000681.2:g.38577955G>A | GRCh38 |
| NC_000019.9:g.39068595G>A , CM000681.1:g.39068595G>A | GRCh37 |
| NC_000019.8:g.43760435G>A | NCBI36 |
| NG_008866.1:g.149256G>A , LRG_766:g.149256G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1146G>A | ||
| ENST00000688602.1:c.2543G>A | ||
| ENST00000689936.1:c.2515G>A | ||
| ENST00000359596.8:c.14210G>A MANE Select | ENSP00000352608.2:p.Arg4737Gln | |
| ENST00000355481.8:c.14195G>A | ENSP00000347667.3:p.Arg4732Gln | |
| ENST00000359596.7:c.14210G>A | ENSP00000352608.2:p.Arg4737Gln | |
| ENST00000360985.7:c.14192G>A | ENSP00000354254.4:p.Arg4731Gln | |
| NM_000540.2:c.14210G>A , LRG_766t1:c.14210G>A | NP_000531.2:p.Arg4737Gln | |
| NM_001042723.1:c.14195G>A | NP_001036188.1:p.Arg4732Gln | |
| XM_006723317.1:c.14192G>A | XP_006723380.1:p.Arg4731Gln | |
| XM_006723319.1:c.14177G>A | XP_006723382.1:p.Arg4726Gln | |
| XM_011527204.1:c.14207G>A | XP_011525506.1:p.Arg4736Gln | |
| XM_011527205.1:c.14123G>A | XP_011525507.1:p.Arg4708Gln | |
| XM_006723317.2:c.14192G>A | XP_006723380.1:p.Arg4731Gln | |
| XM_006723319.2:c.14177G>A | XP_006723382.1:p.Arg4726Gln | |
| XM_011527205.2:c.14123G>A | XP_011525507.1:p.Arg4708Gln | |
| NM_000540.3:c.14210G>A MANE Select | NP_000531.2:p.Arg4737Gln | |
| NM_001042723.2:c.14195G>A | NP_001036188.1:p.Arg4732Gln |