Linked Data
ClinVar Variation Id:
133081
dbSNP Id:
rs113210953
PubMed:
PMID:16163667
ERepo:
CA024200/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580485A>G , CM000681.2:g.38580485A>G | GRCh38 |
| NC_000019.9:g.39071125A>G , CM000681.1:g.39071125A>G | GRCh37 |
| NC_000019.8:g.43762965A>G | NCBI36 |
| NG_008866.1:g.151786A>G , LRG_766:g.151786A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1563A>G | ||
| ENST00000688602.1:c.2960A>G | ||
| ENST00000689936.1:c.2932A>G | ||
| ENST00000359596.8:c.14627A>G MANE Select | ENSP00000352608.2:p.Lys4876Arg | |
| ENST00000355481.8:c.14612A>G | ENSP00000347667.3:p.Lys4871Arg | |
| ENST00000359596.7:c.14627A>G | ENSP00000352608.2:p.Lys4876Arg | |
| ENST00000360985.7:c.14609A>G | ENSP00000354254.4:p.Lys4870Arg | |
| NM_000540.2:c.14627A>G , LRG_766t1:c.14627A>G | NP_000531.2:p.Lys4876Arg | |
| NM_001042723.1:c.14612A>G | NP_001036188.1:p.Lys4871Arg | |
| XM_006723317.1:c.14609A>G | XP_006723380.1:p.Lys4870Arg | |
| XM_006723319.1:c.14594A>G | XP_006723382.1:p.Lys4865Arg | |
| XM_011527204.1:c.14624A>G | XP_011525506.1:p.Lys4875Arg | |
| XM_011527205.1:c.14540A>G | XP_011525507.1:p.Lys4847Arg | |
| XM_006723317.2:c.14609A>G | XP_006723380.1:p.Lys4870Arg | |
| XM_006723319.2:c.14594A>G | XP_006723382.1:p.Lys4865Arg | |
| XM_011527205.2:c.14540A>G | XP_011525507.1:p.Lys4847Arg | |
| NM_000540.3:c.14627A>G MANE Select | NP_000531.2:p.Lys4876Arg | |
| NM_001042723.2:c.14612A>G | NP_001036188.1:p.Lys4871Arg |