Linked Data
ClinVar Variation Id:
56477
ClinVar RCV Id:
RCV000049890
dbSNP Id:
rs386833916
ExAC:
19:36333292 A / G
gnomAD v3:
19-35842390-A-G
gnomAD v4:
19-35842390-A-G
PubMed:
PMID:18614772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842390A>G , CM000681.2:g.35842390A>G | GRCh38 |
| NC_000019.9:g.36333292A>G , CM000681.1:g.36333292A>G | GRCh37 |
| NC_000019.8:g.41025132A>G | NCBI36 |
| NG_013356.2:g.31898T>C , LRG_693:g.31898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2495T>C MANE Select | ENSP00000368190.4:p.Leu832Pro | |
| ENST00000353632.6:c.2495T>C | ENSP00000343634.5:p.Leu832Pro | |
| ENST00000378910.9:c.2495T>C | ENSP00000368190.4:p.Leu832Pro | |
| NM_004646.3:c.2495T>C , LRG_693t1:c.2495T>C | NP_004637.1:p.Leu832Pro | |
| NM_004646.4:c.2495T>C MANE Select | NP_004637.1:p.Leu832Pro |