Linked Data
ClinVar Variation Id:
375594
ClinVar RCV Id:
RCV000417068
dbSNP Id:
rs1057519584
gnomAD v4:
11-2572900-T-A
PubMed:
PMID:26168993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572900T>A , CM000673.2:g.2572900T>A | GRCh38 |
| NC_000011.9:g.2594130T>A , CM000673.1:g.2594130T>A | GRCh37 |
| NC_000011.8:g.2550706T>A | NCBI36 |
| NG_008935.1:g.132910T>A , LRG_287:g.132910T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.574T>A | ENSP00000434560.2:p.Phe192Ile | |
| ENST00000646564.2:c.478-10535T>A | ENSP00000495806.2:n.478-10535T>A | |
| ENST00000155840.12:c.835T>A MANE Select | ENSP00000155840.2:p.Phe279Ile | |
| ENST00000335475.6:c.454T>A | ENSP00000334497.5:p.Phe152Ile | |
| ENST00000646564.1:c.124-10535T>A | ENSP00000495806.1:n.124-10535T>A | |
| ENST00000155840.9:c.835T>A | ENSP00000155840.2:p.Phe279Ile | |
| ENST00000335475.5:c.454T>A | ENSP00000334497.5:p.Phe152Ile | |
| ENST00000496887.6:c.574T>A | ENSP00000434560.1:p.Phe192Ile | |
| NM_000218.2:c.835T>A , LRG_287t1:c.835T>A | NP_000209.2:p.Phe279Ile | |
| NM_181798.1:c.454T>A , LRG_287t2:c.454T>A | NP_861463.1:p.Phe152Ile | |
| NM_000218.3:c.835T>A MANE Select | NP_000209.2:p.Phe279Ile |