Linked Data
ClinVar Variation Id:
56456
dbSNP Id:
rs386833898
gnomAD v4:
19-35845370-A-G
PubMed:
PMID:11854170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35845370A>G , CM000681.2:g.35845370A>G | GRCh38 |
| NC_000019.9:g.36336272A>G , CM000681.1:g.36336272A>G | GRCh37 |
| NC_000019.8:g.41028112A>G | NCBI36 |
| NG_013356.2:g.28918T>C , LRG_693:g.28918T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1928T>C MANE Select | ENSP00000368190.4:p.Leu643Pro | |
| ENST00000353632.6:c.1928T>C | ENSP00000343634.5:p.Leu643Pro | |
| ENST00000378910.9:c.1928T>C | ENSP00000368190.4:p.Leu643Pro | |
| ENST00000585400.1:n.112+29T>C | ||
| NM_004646.3:c.1928T>C , LRG_693t1:c.1928T>C | NP_004637.1:p.Leu643Pro | |
| NM_004646.4:c.1928T>C MANE Select | NP_004637.1:p.Leu643Pro |