Linked Data
ClinVar Variation Id:
2147339
ClinVar RCV Id:
RCV003077139
dbSNP Id:
rs1654044239
gnomAD v4:
1-150804185-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804185G>A , CM000663.2:g.150804185G>A | GRCh38 |
| NC_000001.10:g.150776661G>A , CM000663.1:g.150776661G>A | GRCh37 |
| NC_000001.9:g.149043285G>A | NCBI36 |
| NG_011848.1:g.9152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.454C>T MANE Select | ENSP00000271651.3:p.Leu152Phe | |
| ENST00000443913.2:c.631C>T | ENSP00000405083.2:p.Leu211Phe | |
| ENST00000480670.2:n.3523C>T | ||
| ENST00000676680.1:c.454C>T | ENSP00000503270.1:p.Leu152Phe | |
| ENST00000676716.1:c.331C>T | ENSP00000504737.1:p.Leu111Phe | |
| ENST00000676751.1:c.454C>T | ENSP00000502964.1:p.Leu152Phe | |
| ENST00000676824.1:c.454C>T | ENSP00000504176.1:p.Leu152Phe | |
| ENST00000676966.1:c.454C>T | ENSP00000503723.1:p.Leu152Phe | |
| ENST00000676970.1:c.454C>T | ENSP00000503832.1:p.Leu152Phe | |
| ENST00000677330.1:n.2280C>T | ||
| ENST00000677611.1:n.306C>T | ||
| ENST00000677887.1:c.496C>T | ENSP00000503876.1:p.Leu166Phe | |
| ENST00000678275.1:c.*346C>T | ENSP00000504796.1:n.*346C>T | |
| ENST00000678337.1:c.490C>T | ENSP00000504759.1:p.Leu164Phe | |
| ENST00000678725.1:n.1431C>T | ||
| ENST00000679090.1:n.1039C>T | ||
| ENST00000679148.1:n.3416C>T | ||
| ENST00000679171.1:n.2815C>T | ||
| ENST00000679260.1:c.399+1676C>T | ENSP00000504534.1:n.399+1676C>T | |
| ENST00000271651.7:c.454C>T | ENSP00000271651.3:p.Leu152Phe | |
| ENST00000443913.1:c.631C>T | ENSP00000405083.1:p.Leu211Phe | |
| ENST00000480670.1:n.294C>T | ||
| NM_000396.3:c.454C>T | NP_000387.1:p.Leu152Phe | |
| NM_000396.4:c.454C>T MANE Select | NP_000387.1:p.Leu152Phe |