Linked Data
ClinVar Variation Id:
684837
ClinVar RCV Id:
RCV000845474
dbSNP Id:
rs1595846382
gnomAD v4:
11-47342908-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342908A>C , CM000673.2:g.47342908A>C | GRCh38 |
| NC_000011.9:g.47364459A>C , CM000673.1:g.47364459A>C | GRCh37 |
| NC_000011.8:g.47321035A>C | NCBI36 |
| NG_007667.1:g.14795T>G , LRG_386:g.14795T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1379T>G MANE Select | ENSP00000442795.1:p.Leu460Trp | |
| ENST00000256993.8:c.1379T>G | ENSP00000256993.5:p.Leu460Trp | |
| ENST00000399249.6:c.1379T>G | ENSP00000382193.2:p.Leu460Trp | |
| ENST00000544791.1:c.1379T>G | ENSP00000444259.1:p.Leu460Trp | |
| ENST00000545968.5:c.1379T>G | ENSP00000442795.1:p.Leu460Trp | |
| NM_000256.3:c.1379T>G , LRG_386t1:c.1379T>G MANE Select | NP_000247.2:p.Leu460Trp | |
| XM_011520117.1:c.1361T>G | XP_011518419.1:p.Leu454Trp | |
| XM_011520118.1:c.1379T>G | XP_011518420.1:p.Leu460Trp |