Linked Data
ClinVar Variation Id:
1047588
ClinVar RCV Id:
RCV001352323
dbSNP Id:
rs2064900976
gnomAD v4:
20-10412788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412788G>A , CM000682.2:g.10412788G>A | GRCh38 |
| NC_000020.10:g.10393436G>A , CM000682.1:g.10393436G>A | GRCh37 |
| NC_000020.9:g.10341436G>A | NCBI36 |
| NG_009109.1:g.26431C>T | |
| NG_009109.2:g.26431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.727C>T | ENSP00000498849.1:p.Leu243Phe | |
| ENST00000652676.1:n.459-88C>T | ||
| ENST00000347364.7:c.727C>T MANE Select | ENSP00000246062.4:p.Leu243Phe | |
| ENST00000399054.6:c.727C>T | ENSP00000382008.2:p.Leu243Phe | |
| NM_018848.3:c.727C>T | NP_061336.1:p.Leu243Phe | |
| NM_170784.2:c.727C>T | NP_740754.1:p.Leu243Phe | |
| NR_072977.1:n.364-3985C>T | ||
| NR_072977.2:n.347-3985C>T | ||
| NM_170784.3:c.727C>T MANE Select | NP_740754.1:p.Leu243Phe |