Linked Data
ClinVar Variation Id:
56450
dbSNP Id:
rs386833892
gnomAD v4:
19-35845538-A-C
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35845538A>C , CM000681.2:g.35845538A>C | GRCh38 |
| NC_000019.9:g.36336440A>C , CM000681.1:g.36336440A>C | GRCh37 |
| NC_000019.8:g.41028280A>C | NCBI36 |
| NG_013356.2:g.28750T>G , LRG_693:g.28750T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1760T>G MANE Select | ENSP00000368190.4:p.Leu587Arg | |
| ENST00000353632.6:c.1760T>G | ENSP00000343634.5:p.Leu587Arg | |
| ENST00000378910.9:c.1760T>G | ENSP00000368190.4:p.Leu587Arg | |
| NM_004646.3:c.1760T>G , LRG_693t1:c.1760T>G | NP_004637.1:p.Leu587Arg | |
| NM_004646.4:c.1760T>G MANE Select | NP_004637.1:p.Leu587Arg |