Linked Data
ClinVar Variation Id:
133020
ClinVar RCV Id:
RCV000119440
dbSNP Id:
rs193922841
PubMed:
PMID:18253926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543435G>A , CM000681.2:g.38543435G>A | GRCh38 |
| NC_000019.9:g.39034075G>A , CM000681.1:g.39034075G>A | GRCh37 |
| NC_000019.8:g.43725915G>A | NCBI36 |
| NG_008866.1:g.114736G>A , LRG_766:g.114736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.188G>A | ||
| ENST00000689936.1:c.170G>A | ||
| ENST00000359596.8:c.11778G>A MANE Select | ENSP00000352608.2:p.Gln3926= | |
| ENST00000355481.8:c.11763G>A | ENSP00000347667.3:p.Gln3921= | |
| ENST00000359596.7:c.11778G>A | ENSP00000352608.2:p.Gln3926= | |
| ENST00000360985.7:c.11760G>A | ENSP00000354254.4:p.Gln3920= | |
| ENST00000593322.1:c.387G>A | ||
| ENST00000594335.5:c.5147G>A | ||
| NM_000540.2:c.11778G>A , LRG_766t1:c.11778G>A | NP_000531.2:p.Gln3926= | |
| NM_001042723.1:c.11763G>A | NP_001036188.1:p.Gln3921= | |
| XM_006723317.1:c.11760G>A | XP_006723380.1:p.Gln3920= | |
| XM_006723319.1:c.11745G>A | XP_006723382.1:p.Gln3915= | |
| XM_011527204.1:c.11775G>A | XP_011525506.1:p.Gln3925= | |
| XM_011527205.1:c.11778G>A | XP_011525507.1:p.Gln3926= | |
| XM_006723317.2:c.11760G>A | XP_006723380.1:p.Gln3920= | |
| XM_006723319.2:c.11745G>A | XP_006723382.1:p.Gln3915= | |
| XM_011527205.2:c.11778G>A | XP_011525507.1:p.Gln3926= | |
| NM_000540.3:c.11778G>A MANE Select | NP_000531.2:p.Gln3926= | |
| NM_001042723.2:c.11763G>A | NP_001036188.1:p.Gln3921= |