Linked Data
ClinVar Variation Id:
53042
dbSNP Id:
rs199473450
ExAC:
11:2549180 C / T
gnomAD v2:
11-2549180-C-T
gnomAD v4:
11-2527950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527950C>T , CM000673.2:g.2527950C>T | GRCh38 |
| NC_000011.9:g.2549180C>T , CM000673.1:g.2549180C>T | GRCh37 |
| NC_000011.8:g.2505756C>T | NCBI36 |
| NG_008935.1:g.87960C>T , LRG_287:g.87960C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380776.5:n.206C>T | ||
| ENST00000496887.7:c.148C>T | ENSP00000434560.2:p.Leu50Phe | |
| ENST00000646564.2:c.409C>T | ENSP00000495806.2:p.Leu137Phe | |
| ENST00000155840.12:c.409C>T MANE Select | ENSP00000155840.2:p.Leu137Phe | |
| ENST00000335475.6:c.28C>T | ENSP00000334497.5:p.Leu10Phe | |
| ENST00000646564.1:c.55C>T | ENSP00000495806.1:p.Leu19Phe | |
| ENST00000155840.9:c.409C>T | ENSP00000155840.2:p.Leu137Phe | |
| ENST00000335475.5:c.28C>T | ENSP00000334497.5:p.Leu10Phe | |
| ENST00000345015.4:n.278C>T | ||
| ENST00000380776.4:c.199C>T | ENSP00000370153.4:p.Leu67Phe | |
| ENST00000496887.6:c.148C>T | ENSP00000434560.1:p.Leu50Phe | |
| NM_000218.2:c.409C>T , LRG_287t1:c.409C>T | NP_000209.2:p.Leu137Phe | |
| NM_181798.1:c.28C>T , LRG_287t2:c.28C>T | NP_861463.1:p.Leu10Phe | |
| NM_000218.3:c.409C>T MANE Select | NP_000209.2:p.Leu137Phe |