Linked Data
ClinVar Variation Id:
133181
dbSNP Id:
rs193922801
gnomAD v2:
19-38990290-A-G
gnomAD v3:
19-38499650-A-G
gnomAD v4:
19-38499650-A-G
PubMed:
PMID:14985404
ERepo:
CA024686/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499650A>G , CM000681.2:g.38499650A>G | GRCh38 |
| NC_000019.9:g.38990290A>G , CM000681.1:g.38990290A>G | GRCh37 |
| NC_000019.8:g.43682130A>G | NCBI36 |
| NG_008866.1:g.70951A>G , LRG_766:g.70951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7043A>G | ENSP00000471601.2:p.Glu2348Gly | |
| ENST00000359596.8:c.7043A>G MANE Select | ENSP00000352608.2:p.Glu2348Gly | |
| ENST00000355481.8:c.7043A>G | ENSP00000347667.3:p.Glu2348Gly | |
| ENST00000359596.7:c.7043A>G | ENSP00000352608.2:p.Glu2348Gly | |
| ENST00000360985.7:c.7040A>G | ENSP00000354254.4:p.Glu2347Gly | |
| ENST00000594335.5:c.495A>G | ||
| NM_000540.2:c.7043A>G , LRG_766t1:c.7043A>G | NP_000531.2:p.Glu2348Gly | |
| NM_001042723.1:c.7043A>G | NP_001036188.1:p.Glu2348Gly | |
| XM_006723317.1:c.7043A>G | XP_006723380.1:p.Glu2348Gly | |
| XM_006723319.1:c.7043A>G | XP_006723382.1:p.Glu2348Gly | |
| XM_011527204.1:c.7040A>G | XP_011525506.1:p.Glu2347Gly | |
| XM_011527205.1:c.7043A>G | XP_011525507.1:p.Glu2348Gly | |
| XM_006723317.2:c.7043A>G | XP_006723380.1:p.Glu2348Gly | |
| XM_006723319.2:c.7043A>G | XP_006723382.1:p.Glu2348Gly | |
| XM_011527205.2:c.7043A>G | XP_011525507.1:p.Glu2348Gly | |
| XR_001753735.1:n.7126A>G | ||
| NM_000540.3:c.7043A>G MANE Select | NP_000531.2:p.Glu2348Gly | |
| NM_001042723.2:c.7043A>G | NP_001036188.1:p.Glu2348Gly |