Linked Data
ClinVar Variation Id:
3102511
ClinVar RCV Id:
RCV004395901
dbSNP Id:
rs1774327927
gnomAD v4:
6-31616118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616118T>C , CM000668.2:g.31616118T>C | GRCh38 |
| NC_000006.11:g.31583895T>C , CM000668.1:g.31583895T>C | GRCh37 |
| NC_000006.10:g.31691874T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376059.8:c.169T>C MANE Select | ENSP00000365227.3:p.Phe57Leu | |
| ENST00000337917.11:c.211T>C | ENSP00000338776.7:p.Phe71Leu | |
| ENST00000376049.4:c.7T>C | ENSP00000365217.4:p.Phe3Leu | |
| ENST00000376059.7:c.169T>C | ENSP00000365227.3:p.Phe57Leu | |
| ENST00000466820.1:n.586T>C | ||
| ENST00000497362.5:n.588T>C | ||
| NM_001623.3:c.169T>C | NP_001614.3:p.Phe57Leu | |
| NM_004847.3:c.7T>C | NP_004838.1:p.Phe3Leu | |
| NM_032955.1:c.7T>C | NP_116573.1:p.Phe3Leu | |
| XM_005248870.3:c.169T>C | XP_005248927.1:p.Phe57Leu | |
| XM_005248871.1:c.232T>C | XP_005248928.1:p.Phe78Leu | |
| NM_001318970.1:c.7T>C | NP_001305899.1:p.Phe3Leu | |
| NM_001623.4:c.169T>C | NP_001614.3:p.Phe57Leu | |
| NM_032955.2:c.7T>C | NP_116573.1:p.Phe3Leu | |
| XM_005248870.4:c.169T>C | XP_005248927.1:p.Phe57Leu | |
| XM_017010332.1:c.7T>C | XP_016865821.1:p.Phe3Leu | |
| NM_001623.5:c.169T>C MANE Select | NP_001614.3:p.Phe57Leu | |
| NM_001318970.2:c.7T>C | NP_001305899.1:p.Phe3Leu | |
| NM_032955.3:c.7T>C | NP_116573.1:p.Phe3Leu |