Linked Data
ClinVar Variation Id:
133074
ClinVar RCV Id:
RCV000119523
RCV001787959
RCV001787961
RCV001787962
RCV001787963
RCV001787964
RCV002281941
RCV001787958
RCV001787960
dbSNP Id:
rs193922878
ERepo:
CA024163/MONDO:0007783/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580370C>G , CM000681.2:g.38580370C>G | GRCh38 |
| NC_000019.9:g.39071010C>G , CM000681.1:g.39071010C>G | GRCh37 |
| NC_000019.8:g.43762850C>G | NCBI36 |
| NG_008866.1:g.151671C>G , LRG_766:g.151671C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1448C>G | ||
| ENST00000688602.1:c.2845C>G | ||
| ENST00000689936.1:c.2817C>G | ||
| ENST00000359596.8:c.14512C>G MANE Select | ENSP00000352608.2:p.Leu4838Val | |
| ENST00000355481.8:c.14497C>G | ENSP00000347667.3:p.Leu4833Val | |
| ENST00000359596.7:c.14512C>G | ENSP00000352608.2:p.Leu4838Val | |
| ENST00000360985.7:c.14494C>G | ENSP00000354254.4:p.Leu4832Val | |
| NM_000540.2:c.14512C>G , LRG_766t1:c.14512C>G | NP_000531.2:p.Leu4838Val | |
| NM_001042723.1:c.14497C>G | NP_001036188.1:p.Leu4833Val | |
| XM_006723317.1:c.14494C>G | XP_006723380.1:p.Leu4832Val | |
| XM_006723319.1:c.14479C>G | XP_006723382.1:p.Leu4827Val | |
| XM_011527204.1:c.14509C>G | XP_011525506.1:p.Leu4837Val | |
| XM_011527205.1:c.14425C>G | XP_011525507.1:p.Leu4809Val | |
| XM_006723317.2:c.14494C>G | XP_006723380.1:p.Leu4832Val | |
| XM_006723319.2:c.14479C>G | XP_006723382.1:p.Leu4827Val | |
| XM_011527205.2:c.14425C>G | XP_011525507.1:p.Leu4809Val | |
| NM_000540.3:c.14512C>G MANE Select | NP_000531.2:p.Leu4838Val | |
| NM_001042723.2:c.14497C>G | NP_001036188.1:p.Leu4833Val |