Linked Data
ClinVar Variation Id:
1699497
ClinVar RCV Id:
RCV002273354
dbSNP Id:
rs2116814869
gnomAD v4:
7-98994590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98994590C>T , CM000669.2:g.98994590C>T | GRCh38 |
| NC_000007.13:g.98592213C>T , CM000669.1:g.98592213C>T | GRCh37 |
| NC_000007.12:g.98430149C>T | NCBI36 |
| NG_030010.1:g.121101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.9976C>T | ENSP00000403708.3:p.Leu3326Phe | |
| ENST00000704588.1:c.5784+853C>T | ENSP00000515962.1:n.5784+853C>T | |
| ENST00000704589.1:c.1445C>T | ENSP00000515963.1:p.Ser482Phe | |
| ENST00000704590.1:c.1213+2363C>T | ENSP00000515964.1:n.1213+2363C>T | |
| ENST00000704591.1:c.398C>T | ENSP00000515965.1:p.Ser133Phe | |
| ENST00000360902.2:c.2464C>T | ENSP00000496512.1:p.Leu822Phe | |
| ENST00000456197.2:c.10051C>T MANE Select | ENSP00000394645.2:p.Leu3351Phe | |
| ENST00000355540.7:c.9922C>T | ENSP00000347733.3:p.Leu3308Phe | |
| ENST00000359863.8:c.10009C>T | ENSP00000352925.4:p.Leu3337Phe | |
| ENST00000446306.7:c.9976C>T | ENSP00000403708.3:p.Leu3326Phe | |
| ENST00000456197.1:c.9195C>T | ||
| ENST00000628380.2:c.9976C>T | ENSP00000485781.1:p.Leu3326Phe | |
| NM_001244580.1:c.10009C>T | NP_001231509.1:p.Leu3337Phe | |
| NM_003496.3:c.9922C>T | NP_003487.1:p.Leu3308Phe | |
| NM_001375524.1:c.10051C>T MANE Select | NP_001362453.1:p.Leu3351Phe | |
| NM_001244580.2:c.10009C>T | NP_001231509.1:p.Leu3337Phe | |
| NM_003496.4:c.9922C>T | NP_003487.1:p.Leu3308Phe |