Linked Data
ClinVar Variation Id:
1066
ClinVar RCV Id:
RCV000001121
dbSNP Id:
rs121918212
gnomAD v2:
1-173826742-C-T
gnomAD v3:
1-173857604-C-T
gnomAD v4:
1-173857604-C-T
PubMed:
PMID:17384640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857604C>T , CM000663.2:g.173857604C>T | GRCh38 |
| NC_000001.10:g.173826742C>T , CM000663.1:g.173826742C>T | GRCh37 |
| NC_000001.9:g.172093365C>T | NCBI36 |
| NG_016138.1:g.37946C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*1416C>T | ENSP00000497663.1:n.*1416C>T | |
| ENST00000647645.1:c.1774C>T | ENSP00000497450.1:p.Leu592Phe | |
| ENST00000647730.1:c.*1527C>T | ENSP00000497781.1:n.*1527C>T | |
| ENST00000647788.1:c.*981C>T | ENSP00000497769.1:n.*981C>T | |
| ENST00000648271.1:c.*2303C>T | ENSP00000497795.1:n.*2303C>T | |
| ENST00000648807.1:c.1684C>T | ENSP00000497472.1:p.Leu562Phe | |
| ENST00000648960.1:c.1354C>T | ENSP00000497091.1:p.Leu452Phe | |
| ENST00000649067.1:c.*840C>T | ENSP00000497052.1:n.*840C>T | |
| ENST00000649689.2:c.1837C>T MANE Select | ENSP00000497569.1:p.Leu613Phe | |
| ENST00000361951.4:c.1837C>T | ENSP00000355086.4:p.Leu613Phe | |
| ENST00000471476.1:n.659C>T | ||
| NM_018122.4:c.1837C>T | NP_060592.2:p.Leu613Phe | |
| XM_006711427.2:c.1684C>T | XP_006711490.1:p.Leu562Phe | |
| NM_001365212.1:c.1684C>T | NP_001352141.1:p.Leu562Phe | |
| NM_018122.5:c.1837C>T MANE Select | NP_060592.2:p.Leu613Phe |