Linked Data
ClinVar Variation Id:
375476
ClinVar RCV Id:
RCV000416757
dbSNP Id:
rs1057519508
PubMed:
PMID:27838789
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26951628G>T , CM000663.2:g.26951628G>T | GRCh38 |
| NC_000001.10:g.27278119G>T , CM000663.1:g.27278119G>T | GRCh37 |
| NC_000001.9:g.27150706G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320567.6:c.753C>A MANE Select | ENSP00000319179.5:p.Phe251Leu | |
| ENST00000320567.5:c.753C>A | ENSP00000319179.5:p.Phe251Leu | |
| ENST00000616918.1:c.*11C>A | ENSP00000481107.1:n.*11C>A | |
| NM_152365.2:c.753C>A | NP_689578.2:p.Phe251Leu | |
| XM_005245735.2:c.753C>A | XP_005245792.1:p.Phe251Leu | |
| XM_011540622.1:c.753C>A | XP_011538924.1:p.Phe251Leu | |
| XM_011540622.2:c.753C>A | XP_011538924.1:p.Phe251Leu | |
| NM_152365.3:c.753C>A MANE Select | NP_689578.2:p.Phe251Leu |