Linked Data
ClinVar Variation Id:
2438510
ClinVar RCV Id:
RCV003139262
dbSNP Id:
rs767770438
ExAC:
6:30890952 C / T
gnomAD v2:
6-30890952-C-T
gnomAD v4:
6-30923175-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923175C>T , CM000668.2:g.30923175C>T | GRCh38 |
| NC_000006.11:g.30890952C>T , CM000668.1:g.30890952C>T | GRCh37 |
| NC_000006.10:g.30998931C>T | NCBI36 |
| NG_034224.1:g.13968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2257C>T | ENSP00000441000.2:p.Leu753Phe | |
| ENST00000672801.1:c.2251C>T | ENSP00000500615.1:p.Leu751Phe | |
| ENST00000676266.1:c.2257C>T MANE Select | ENSP00000502585.1:p.Leu753Phe | |
| ENST00000321897.9:c.2257C>T | ENSP00000316092.5:p.Leu753Phe | |
| ENST00000469358.5:n.2245C>T | ||
| ENST00000476162.5:n.1044C>T | ||
| ENST00000477052.1:n.343C>T | ||
| ENST00000477288.5:n.4870C>T | ||
| ENST00000541562.5:c.2347C>T | ENSP00000441000.1:p.Leu783Phe | |
| ENST00000542001.5:c.2251C>T | ENSP00000438200.2:p.Leu751Phe | |
| ENST00000625423.2:c.1837C>T | ENSP00000485818.1:p.Leu613Phe | |
| NM_001167733.2:c.1837C>T | NP_001161205.1:p.Leu613Phe | |
| NM_001167734.1:c.2347C>T | NP_001161206.1:p.Leu783Phe | |
| NM_020442.5:c.2257C>T | NP_065175.4:p.Leu753Phe | |
| NM_001167733.3:c.1837C>T | NP_001161205.1:p.Leu613Phe | |
| NM_001167734.2:c.2347C>T | NP_001161206.1:p.Leu783Phe | |
| NM_020442.6:c.2257C>T MANE Select | NP_065175.4:p.Leu753Phe |