Linked Data
ClinVar Variation Id:
133018
dbSNP Id:
rs193922840
gnomAD v4:
19-38543405-T-G
ERepo:
CA023930/MONDO:0007783/012
PubMed:
PMID:12411788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543405T>G , CM000681.2:g.38543405T>G | GRCh38 |
| NC_000019.9:g.39034045T>G , CM000681.1:g.39034045T>G | GRCh37 |
| NC_000019.8:g.43725885T>G | NCBI36 |
| NG_008866.1:g.114706T>G , LRG_766:g.114706T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.158T>G | ||
| ENST00000689936.1:c.140T>G | ||
| ENST00000359596.8:c.11748T>G MANE Select | ENSP00000352608.2:p.Ile3916Met | |
| ENST00000355481.8:c.11733T>G | ENSP00000347667.3:p.Ile3911Met | |
| ENST00000359596.7:c.11748T>G | ENSP00000352608.2:p.Ile3916Met | |
| ENST00000360985.7:c.11730T>G | ENSP00000354254.4:p.Ile3910Met | |
| ENST00000593322.1:c.357T>G | ||
| ENST00000594335.5:c.5117T>G | ||
| NM_000540.2:c.11748T>G , LRG_766t1:c.11748T>G | NP_000531.2:p.Ile3916Met | |
| NM_001042723.1:c.11733T>G | NP_001036188.1:p.Ile3911Met | |
| XM_006723317.1:c.11730T>G | XP_006723380.1:p.Ile3910Met | |
| XM_006723319.1:c.11715T>G | XP_006723382.1:p.Ile3905Met | |
| XM_011527204.1:c.11745T>G | XP_011525506.1:p.Ile3915Met | |
| XM_011527205.1:c.11748T>G | XP_011525507.1:p.Ile3916Met | |
| XM_006723317.2:c.11730T>G | XP_006723380.1:p.Ile3910Met | |
| XM_006723319.2:c.11715T>G | XP_006723382.1:p.Ile3905Met | |
| XM_011527205.2:c.11748T>G | XP_011525507.1:p.Ile3916Met | |
| NM_000540.3:c.11748T>G MANE Select | NP_000531.2:p.Ile3916Met | |
| NM_001042723.2:c.11733T>G | NP_001036188.1:p.Ile3911Met |