Linked Data
ClinVar Variation Id:
133072
ClinVar RCV Id:
RCV000119521
RCV001787952
RCV001787957
RCV002225084
RCV001787951
RCV001787953
RCV001787954
RCV001787955
RCV001787956
dbSNP Id:
rs193922876
ERepo:
CA024158/MONDO:0007783/012
PubMed:
PMID:18212565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580114C>T , CM000681.2:g.38580114C>T | GRCh38 |
| NC_000019.9:g.39070754C>T , CM000681.1:g.39070754C>T | GRCh37 |
| NC_000019.8:g.43762594C>T | NCBI36 |
| NG_008866.1:g.151415C>T , LRG_766:g.151415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1433C>T | ||
| ENST00000688602.1:c.2830C>T | ||
| ENST00000689936.1:c.2802C>T | ||
| ENST00000359596.8:c.14497C>T MANE Select | ENSP00000352608.2:p.His4833Tyr | |
| ENST00000355481.8:c.14482C>T | ENSP00000347667.3:p.His4828Tyr | |
| ENST00000359596.7:c.14497C>T | ENSP00000352608.2:p.His4833Tyr | |
| ENST00000360985.7:c.14479C>T | ENSP00000354254.4:p.His4827Tyr | |
| NM_000540.2:c.14497C>T , LRG_766t1:c.14497C>T | NP_000531.2:p.His4833Tyr | |
| NM_001042723.1:c.14482C>T | NP_001036188.1:p.His4828Tyr | |
| XM_006723317.1:c.14479C>T | XP_006723380.1:p.His4827Tyr | |
| XM_006723319.1:c.14464C>T | XP_006723382.1:p.His4822Tyr | |
| XM_011527204.1:c.14494C>T | XP_011525506.1:p.His4832Tyr | |
| XM_011527205.1:c.14410C>T | XP_011525507.1:p.His4804Tyr | |
| XM_006723317.2:c.14479C>T | XP_006723380.1:p.His4827Tyr | |
| XM_006723319.2:c.14464C>T | XP_006723382.1:p.His4822Tyr | |
| XM_011527205.2:c.14410C>T | XP_011525507.1:p.His4804Tyr | |
| NM_000540.3:c.14497C>T MANE Select | NP_000531.2:p.His4833Tyr | |
| NM_001042723.2:c.14482C>T | NP_001036188.1:p.His4828Tyr |