Linked Data
ClinVar Variation Id:
8194
ClinVar RCV Id:
RCV000008677
dbSNP Id:
rs121909292
PubMed:
PMID:10788335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74461835A>G , CM000664.2:g.74461835A>G | GRCh38 |
| NC_000002.11:g.74688962A>G , CM000664.1:g.74688962A>G | GRCh37 |
| NC_000002.10:g.74542470A>G | NCBI36 |
| NG_008922.1:g.8576T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000690565.1:c.1855+99T>C | ENSP00000510501.1:n.1855+99T>C | |
| ENST00000691308.1:c.1075+99T>C | ENSP00000509583.1:n.1075+99T>C | |
| ENST00000448666.7:c.1954T>C MANE Select | ENSP00000410992.3:p.Phe652Leu | |
| ENST00000452063.7:c.1636T>C | ENSP00000388201.2:p.Phe546Leu | |
| ENST00000462443.2:c.1129T>C | ENSP00000497265.1:p.Phe377Leu | |
| ENST00000647723.1:c.1897T>C | ||
| ENST00000647753.1:c.*1247T>C | ENSP00000497318.1:n.*1247T>C | |
| ENST00000647771.1:c.*1442T>C | ENSP00000496788.1:n.*1442T>C | |
| ENST00000647915.1:c.*1247T>C | ENSP00000498123.1:n.*1247T>C | |
| ENST00000648768.1:n.2211T>C | ||
| ENST00000648810.1:c.1129T>C | ENSP00000496949.1:p.Phe377Leu | |
| ENST00000649075.1:c.*882T>C | ENSP00000497836.1:n.*882T>C | |
| ENST00000649601.1:c.*1134T>C | ENSP00000496796.1:n.*1134T>C | |
| ENST00000649777.1:n.2163T>C | ||
| ENST00000649854.1:c.1587T>C | ||
| ENST00000233616.8:c.1954T>C | ENSP00000233616.4:p.Phe652Leu | |
| ENST00000409065.5:c.*1134T>C | ENSP00000386493.1:n.*1134T>C | |
| ENST00000452063.6:c.1636T>C | ENSP00000388201.2:p.Phe546Leu | |
| ENST00000462189.1:n.1635T>C | ||
| NM_001146158.1:c.1636T>C | NP_001139630.1:p.Phe546Leu | |
| NM_006302.2:c.1954T>C | NP_006293.2:p.Phe652Leu | |
| NM_006302.3:c.1954T>C MANE Select | NP_006293.2:p.Phe652Leu | |
| NM_001146158.2:c.1636T>C | NP_001139630.1:p.Phe546Leu |