Linked Data
ClinVar Variation Id:
5506
ClinVar RCV Id:
RCV000005841
dbSNP Id:
rs137853020
gnomAD v2:
20-2641558-A-G
gnomAD v4:
20-2660912-A-G
PubMed:
PMID:18806796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2660912A>G , CM000682.2:g.2660912A>G | GRCh38 |
| NC_000020.10:g.2641558A>G , CM000682.1:g.2641558A>G | GRCh37 |
| NC_000020.9:g.2589558A>G | NCBI36 |
| NG_012149.1:g.8286T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380843.9:c.395T>C MANE Select | ENSP00000370223.4:p.Leu132Pro | |
| ENST00000380843.8:c.395T>C | ENSP00000370223.4:p.Leu132Pro | |
| ENST00000380851.9:c.395T>C | ENSP00000370232.5:p.Leu132Pro | |
| ENST00000462967.5:n.422T>C | ||
| ENST00000474315.5:c.395T>C | ENSP00000482773.1:p.Leu132Pro | |
| ENST00000488299.5:n.395T>C | ||
| ENST00000491065.1:n.416T>C | ||
| ENST00000613370.1:c.395T>C | ENSP00000484922.1:p.Leu132Pro | |
| NM_001258384.1:c.395T>C | NP_001245313.1:p.Leu132Pro | |
| NM_006899.3:c.395T>C | NP_008830.2:p.Leu132Pro | |
| NM_174855.2:c.395T>C | NP_777280.1:p.Leu132Pro | |
| XM_005260716.1:c.395T>C | XP_005260773.1:p.Leu132Pro | |
| XR_937066.1:n.423T>C | ||
| NM_001258384.2:c.395T>C | NP_001245313.1:p.Leu132Pro | |
| NM_001330763.1:c.395T>C | NP_001317692.1:p.Leu132Pro | |
| NM_006899.4:c.395T>C | NP_008830.2:p.Leu132Pro | |
| NM_174855.3:c.395T>C | NP_777280.1:p.Leu132Pro | |
| NR_136344.1:n.430T>C | ||
| XR_001754265.1:n.423T>C | ||
| XR_001754266.1:n.423T>C | ||
| XR_001754267.1:n.423T>C | ||
| NM_006899.5:c.395T>C MANE Select | NP_008830.2:p.Leu132Pro | |
| NM_001330763.2:c.395T>C | NP_001317692.1:p.Leu132Pro | |
| NM_174855.4:c.395T>C | NP_777280.1:p.Leu132Pro | |
| NR_136344.2:n.423T>C | ||
| NM_001258384.3:c.395T>C | NP_001245313.1:p.Leu132Pro |