Linked Data
ClinVar Variation Id:
774893
ClinVar RCV Id:
RCV000954957
dbSNP Id:
rs145700158
ExAC:
10:71906005 A / G
gnomAD v2:
10-71906005-A-G
gnomAD v3:
10-70146249-A-G
gnomAD v4:
10-70146249-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70146249A>G , CM000672.2:g.70146249A>G | GRCh38 |
| NC_000010.10:g.71906005A>G , CM000672.1:g.71906005A>G | GRCh37 |
| NC_000010.9:g.71576011A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287078.7:c.338T>C MANE Select | ENSP00000287078.6:p.Leu113Pro | |
| ENST00000287078.6:c.338T>C | ENSP00000287078.6:p.Leu113Pro | |
| ENST00000335494.5:c.338T>C | ENSP00000335673.5:p.Leu113Pro | |
| ENST00000479086.1:n.144+284T>C | ||
| NM_001040273.2:c.338T>C | NP_001035363.1:p.Leu113Pro | |
| NM_173555.3:c.338T>C | NP_775826.2:p.Leu113Pro | |
| NR_073580.1:n.88+404T>C | ||
| NR_073581.1:n.208+284T>C | ||
| NR_073582.1:n.88+404T>C | ||
| NR_073591.1:n.88+404T>C | ||
| NR_073592.1:n.208+284T>C | ||
| NR_073593.1:n.88+404T>C | ||
| NR_073594.1:n.208+284T>C | ||
| NM_173555.4:c.338T>C MANE Select | NP_775826.2:p.Leu113Pro | |
| NM_001040273.3:c.338T>C | NP_001035363.1:p.Leu113Pro | |
| NR_073580.2:n.48+404T>C | ||
| NR_073581.2:n.168+284T>C | ||
| NR_073582.2:n.48+404T>C | ||
| NR_073591.2:n.48+404T>C | ||
| NR_073592.2:n.168+284T>C | ||
| NR_073593.2:n.48+404T>C | ||
| NR_073594.2:n.168+284T>C |