Linked Data
ClinVar Variation Id:
1103021
ClinVar RCV Id:
RCV001426543
dbSNP Id:
rs201838999
ExAC:
19:39068796 C / T
gnomAD v2:
19-39068796-C-T
gnomAD v3:
19-38578156-C-T
gnomAD v4:
19-38578156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578156C>T , CM000681.2:g.38578156C>T | GRCh38 |
| NC_000019.9:g.39068796C>T , CM000681.1:g.39068796C>T | GRCh37 |
| NC_000019.8:g.43760636C>T | NCBI36 |
| NG_008866.1:g.149457C>T , LRG_766:g.149457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1252C>T | ||
| ENST00000688602.1:c.2649C>T | ||
| ENST00000689936.1:c.2621C>T | ||
| ENST00000359596.8:c.14316C>T MANE Select | ENSP00000352608.2:p.Ile4772= | |
| ENST00000355481.8:c.14301C>T | ENSP00000347667.3:p.Ile4767= | |
| ENST00000359596.7:c.14316C>T | ENSP00000352608.2:p.Ile4772= | |
| ENST00000360985.7:c.14298C>T | ENSP00000354254.4:p.Ile4766= | |
| NM_000540.2:c.14316C>T , LRG_766t1:c.14316C>T | NP_000531.2:p.Ile4772= | |
| NM_001042723.1:c.14301C>T | NP_001036188.1:p.Ile4767= | |
| XM_006723317.1:c.14298C>T | XP_006723380.1:p.Ile4766= | |
| XM_006723319.1:c.14283C>T | XP_006723382.1:p.Ile4761= | |
| XM_011527204.1:c.14313C>T | XP_011525506.1:p.Ile4771= | |
| XM_011527205.1:c.14229C>T | XP_011525507.1:p.Ile4743= | |
| XM_006723317.2:c.14298C>T | XP_006723380.1:p.Ile4766= | |
| XM_006723319.2:c.14283C>T | XP_006723382.1:p.Ile4761= | |
| XM_011527205.2:c.14229C>T | XP_011525507.1:p.Ile4743= | |
| NM_000540.3:c.14316C>T MANE Select | NP_000531.2:p.Ile4772= | |
| NM_001042723.2:c.14301C>T | NP_001036188.1:p.Ile4767= |