Linked Data
ClinVar Variation Id:
217837
dbSNP Id:
rs774172488
ExAC:
11:47358992 G / A
gnomAD v2:
11-47358992-G-A
gnomAD v3:
11-47337441-G-A
gnomAD v4:
11-47337441-G-A
PubMed:
PMID:16199542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337441G>A , CM000673.2:g.47337441G>A | GRCh38 |
| NC_000011.9:g.47358992G>A , CM000673.1:g.47358992G>A | GRCh37 |
| NC_000011.8:g.47315568G>A | NCBI36 |
| NG_007667.1:g.20262C>T , LRG_386:g.20262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2552C>T MANE Select | ENSP00000442795.1:p.Ala851Val | |
| ENST00000256993.8:c.2552C>T | ENSP00000256993.5:p.Ala851Val | |
| ENST00000399249.6:c.2552C>T | ENSP00000382193.2:p.Ala851Val | |
| ENST00000544791.1:c.*57C>T | ENSP00000444259.1:n.*57C>T | |
| ENST00000545968.5:c.2552C>T | ENSP00000442795.1:p.Ala851Val | |
| NM_000256.3:c.2552C>T , LRG_386t1:c.2552C>T MANE Select | NP_000247.2:p.Ala851Val | |
| XM_011520117.1:c.2534C>T | XP_011518419.1:p.Ala845Val | |
| XM_011520118.1:c.2471C>T | XP_011518420.1:p.Ala824Val |