Linked Data
ClinVar Variation Id:
133137
ClinVar RCV Id:
RCV000119626
RCV001588949
RCV003227656
RCV003227657
RCV003227658
RCV003227659
RCV003227661
RCV003227660
RCV003227662
dbSNP Id:
rs193922753
ERepo:
CA024467/MONDO:0007783/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38444212G>T , CM000681.2:g.38444212G>T | GRCh38 |
| NC_000019.9:g.38934852G>T , CM000681.1:g.38934852G>T | GRCh37 |
| NC_000019.8:g.43626692G>T | NCBI36 |
| NG_008866.1:g.15513G>T , LRG_766:g.15513G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.488G>T | ENSP00000471601.2:p.Arg163Leu | |
| ENST00000359596.8:c.488G>T MANE Select | ENSP00000352608.2:p.Arg163Leu | |
| ENST00000355481.8:c.488G>T | ENSP00000347667.3:p.Arg163Leu | |
| ENST00000359596.7:c.488G>T | ENSP00000352608.2:p.Arg163Leu | |
| ENST00000360985.7:c.488G>T | ENSP00000354254.4:p.Arg163Leu | |
| NM_000540.2:c.488G>T , LRG_766t1:c.488G>T | NP_000531.2:p.Arg163Leu | |
| NM_001042723.1:c.488G>T | NP_001036188.1:p.Arg163Leu | |
| XM_006723317.1:c.488G>T | XP_006723380.1:p.Arg163Leu | |
| XM_006723319.1:c.488G>T | XP_006723382.1:p.Arg163Leu | |
| XM_011527204.1:c.488G>T | XP_011525506.1:p.Arg163Leu | |
| XM_011527205.1:c.488G>T | XP_011525507.1:p.Arg163Leu | |
| XM_006723317.2:c.488G>T | XP_006723380.1:p.Arg163Leu | |
| XM_006723319.2:c.488G>T | XP_006723382.1:p.Arg163Leu | |
| XM_011527205.2:c.488G>T | XP_011525507.1:p.Arg163Leu | |
| XR_001753735.1:n.571G>T | ||
| NM_000540.3:c.488G>T MANE Select | NP_000531.2:p.Arg163Leu | |
| NM_001042723.2:c.488G>T | NP_001036188.1:p.Arg163Leu |