Linked Data
ClinVar Variation Id:
133070
dbSNP Id:
rs193922874
ERepo:
CA024148/MONDO:0018493/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580088T>C , CM000681.2:g.38580088T>C | GRCh38 |
| NC_000019.9:g.39070728T>C , CM000681.1:g.39070728T>C | GRCh37 |
| NC_000019.8:g.43762568T>C | NCBI36 |
| NG_008866.1:g.151389T>C , LRG_766:g.151389T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1407T>C | ||
| ENST00000688602.1:c.2804T>C | ||
| ENST00000689936.1:c.2776T>C | ||
| ENST00000359596.8:c.14471T>C MANE Select | ENSP00000352608.2:p.Leu4824Pro | |
| ENST00000355481.8:c.14456T>C | ENSP00000347667.3:p.Leu4819Pro | |
| ENST00000359596.7:c.14471T>C | ENSP00000352608.2:p.Leu4824Pro | |
| ENST00000360985.7:c.14453T>C | ENSP00000354254.4:p.Leu4818Pro | |
| NM_000540.2:c.14471T>C , LRG_766t1:c.14471T>C | NP_000531.2:p.Leu4824Pro | |
| NM_001042723.1:c.14456T>C | NP_001036188.1:p.Leu4819Pro | |
| XM_006723317.1:c.14453T>C | XP_006723380.1:p.Leu4818Pro | |
| XM_006723319.1:c.14438T>C | XP_006723382.1:p.Leu4813Pro | |
| XM_011527204.1:c.14468T>C | XP_011525506.1:p.Leu4823Pro | |
| XM_011527205.1:c.14384T>C | XP_011525507.1:p.Leu4795Pro | |
| XM_006723317.2:c.14453T>C | XP_006723380.1:p.Leu4818Pro | |
| XM_006723319.2:c.14438T>C | XP_006723382.1:p.Leu4813Pro | |
| XM_011527205.2:c.14384T>C | XP_011525507.1:p.Leu4795Pro | |
| NM_000540.3:c.14471T>C MANE Select | NP_000531.2:p.Leu4824Pro | |
| NM_001042723.2:c.14456T>C | NP_001036188.1:p.Leu4819Pro |