Linked Data
ClinVar Variation Id:
402172
ClinVar RCV Id:
RCV000454332
dbSNP Id:
rs765227276
ExAC:
11:62344463 C / T
gnomAD v2:
11-62344463-C-T
gnomAD v3:
11-62576991-C-T
gnomAD v4:
11-62576991-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62576991C>T , CM000673.2:g.62576991C>T | GRCh38 |
| NC_000011.9:g.62344463C>T , CM000673.1:g.62344463C>T | GRCh37 |
| NC_000011.8:g.62101039C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476907.6:c.1297G>A MANE Select | ENSP00000419607.1:p.Ala433Thr | |
| ENST00000308436.11:c.1411G>A | ENSP00000308000.7:p.Ala471Thr | |
| ENST00000463241.2:n.162G>A | ||
| ENST00000469480.1:n.103G>A | ||
| ENST00000476907.5:c.1297G>A | ENSP00000419607.1:p.Ala433Thr | |
| ENST00000496634.2:c.1297G>A | ENSP00000456163.1:p.Ala433Thr | |
| ENST00000526409.5:n.167G>A | ||
| NM_022830.2:c.1411G>A | NP_073741.2:p.Ala471Thr | |
| NM_001367906.1:c.1271-33G>A | NP_001354835.1:n.1271-33G>A | |
| NM_022830.3:c.1297G>A MANE Select | NP_073741.3:p.Ala433Thr |