Linked Data
ClinVar Variation Id:
2889236
ClinVar RCV Id:
RCV003756668
dbSNP Id:
rs45613041
gnomAD v3:
19-38543411-T-G
gnomAD v4:
19-38543411-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543411T>G , CM000681.2:g.38543411T>G | GRCh38 |
| NC_000019.9:g.39034051T>G , CM000681.1:g.39034051T>G | GRCh37 |
| NC_000019.8:g.43725891T>G | NCBI36 |
| NG_008866.1:g.114712T>G , LRG_766:g.114712T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.164T>G | ||
| ENST00000689936.1:c.146T>G | ||
| ENST00000359596.8:c.11754T>G MANE Select | ENSP00000352608.2:p.Thr3918= | |
| ENST00000355481.8:c.11739T>G | ENSP00000347667.3:p.Thr3913= | |
| ENST00000359596.7:c.11754T>G | ENSP00000352608.2:p.Thr3918= | |
| ENST00000360985.7:c.11736T>G | ENSP00000354254.4:p.Thr3912= | |
| ENST00000593322.1:c.363T>G | ||
| ENST00000594335.5:c.5123T>G | ||
| NM_000540.2:c.11754T>G , LRG_766t1:c.11754T>G | NP_000531.2:p.Thr3918= | |
| NM_001042723.1:c.11739T>G | NP_001036188.1:p.Thr3913= | |
| XM_006723317.1:c.11736T>G | XP_006723380.1:p.Thr3912= | |
| XM_006723319.1:c.11721T>G | XP_006723382.1:p.Thr3907= | |
| XM_011527204.1:c.11751T>G | XP_011525506.1:p.Thr3917= | |
| XM_011527205.1:c.11754T>G | XP_011525507.1:p.Thr3918= | |
| XM_006723317.2:c.11736T>G | XP_006723380.1:p.Thr3912= | |
| XM_006723319.2:c.11721T>G | XP_006723382.1:p.Thr3907= | |
| XM_011527205.2:c.11754T>G | XP_011525507.1:p.Thr3918= | |
| NM_000540.3:c.11754T>G MANE Select | NP_000531.2:p.Thr3918= | |
| NM_001042723.2:c.11739T>G | NP_001036188.1:p.Thr3913= |