Linked Data
ClinVar Variation Id:
133068
dbSNP Id:
rs143988412
ERepo:
CA024143/MONDO:0018493/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580066A>T , CM000681.2:g.38580066A>T | GRCh38 |
| NC_000019.9:g.39070706A>T , CM000681.1:g.39070706A>T | GRCh37 |
| NC_000019.8:g.43762546A>T | NCBI36 |
| NG_008866.1:g.151367A>T , LRG_766:g.151367A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1385A>T | ||
| ENST00000688602.1:c.2782A>T | ||
| ENST00000689936.1:c.2754A>T | ||
| ENST00000359596.8:c.14449A>T MANE Select | ENSP00000352608.2:p.Ile4817Phe | |
| ENST00000355481.8:c.14434A>T | ENSP00000347667.3:p.Ile4812Phe | |
| ENST00000359596.7:c.14449A>T | ENSP00000352608.2:p.Ile4817Phe | |
| ENST00000360985.7:c.14431A>T | ENSP00000354254.4:p.Ile4811Phe | |
| NM_000540.2:c.14449A>T , LRG_766t1:c.14449A>T | NP_000531.2:p.Ile4817Phe | |
| NM_001042723.1:c.14434A>T | NP_001036188.1:p.Ile4812Phe | |
| XM_006723317.1:c.14431A>T | XP_006723380.1:p.Ile4811Phe | |
| XM_006723319.1:c.14416A>T | XP_006723382.1:p.Ile4806Phe | |
| XM_011527204.1:c.14446A>T | XP_011525506.1:p.Ile4816Phe | |
| XM_011527205.1:c.14362A>T | XP_011525507.1:p.Ile4788Phe | |
| XM_006723317.2:c.14431A>T | XP_006723380.1:p.Ile4811Phe | |
| XM_006723319.2:c.14416A>T | XP_006723382.1:p.Ile4806Phe | |
| XM_011527205.2:c.14362A>T | XP_011525507.1:p.Ile4788Phe | |
| NM_000540.3:c.14449A>T MANE Select | NP_000531.2:p.Ile4817Phe | |
| NM_001042723.2:c.14434A>T | NP_001036188.1:p.Ile4812Phe |