Linked Data
ClinVar Variation Id:
919785
ClinVar RCV Id:
RCV001178192
dbSNP Id:
rs2095900572
gnomAD v4:
11-47351263-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351263A>G , CM000673.2:g.47351263A>G | GRCh38 |
| NC_000011.9:g.47372814A>G , CM000673.1:g.47372814A>G | GRCh37 |
| NC_000011.8:g.47329390A>G | NCBI36 |
| NG_007667.1:g.6440T>C , LRG_386:g.6440T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.268T>C MANE Select | ENSP00000442795.1:p.Phe90Leu | |
| ENST00000256993.8:c.268T>C | ENSP00000256993.5:p.Phe90Leu | |
| ENST00000399249.6:c.268T>C | ENSP00000382193.2:p.Phe90Leu | |
| ENST00000544791.1:c.268T>C | ENSP00000444259.1:p.Phe90Leu | |
| ENST00000545968.5:c.268T>C | ENSP00000442795.1:p.Phe90Leu | |
| NM_000256.3:c.268T>C , LRG_386t1:c.268T>C MANE Select | NP_000247.2:p.Phe90Leu | |
| XM_011520117.1:c.268T>C | XP_011518419.1:p.Phe90Leu | |
| XM_011520118.1:c.268T>C | XP_011518420.1:p.Phe90Leu |