Linked Data
ClinVar Variation Id:
2976464
ClinVar RCV Id:
RCV003836614
dbSNP Id:
rs755519159
ExAC:
2:26705389 G / T
gnomAD v2:
2-26705389-G-T
gnomAD v4:
2-26482521-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482521G>T , CM000664.2:g.26482521G>T | GRCh38 |
| NC_000002.11:g.26705389G>T , CM000664.1:g.26705389G>T | GRCh37 |
| NC_000002.10:g.26558893G>T | NCBI36 |
| NG_009937.1:g.81178C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1464C>A MANE Select | ENSP00000272371.2:p.Phe488Leu | |
| ENST00000272371.6:c.1464C>A | ENSP00000272371.2:p.Phe488Leu | |
| ENST00000403946.7:c.1464C>A | ENSP00000385255.3:p.Phe488Leu | |
| NM_001287489.1:c.1464C>A | NP_001274418.1:p.Phe488Leu | |
| NM_194248.2:c.1464C>A | NP_919224.1:p.Phe488Leu | |
| XM_005264644.2:c.1509C>A | XP_005264701.1:p.Phe503Leu | |
| XM_011533185.1:c.1509C>A | XP_011531487.1:p.Phe503Leu | |
| XM_017005338.1:c.1464C>A | XP_016860827.1:p.Phe488Leu | |
| NM_001287489.2:c.1464C>A | NP_001274418.1:p.Phe488Leu | |
| NM_194248.3:c.1464C>A MANE Select | NP_919224.1:p.Phe488Leu |