Linked Data
ClinVar Variation Id:
297154
dbSNP Id:
rs138454151
ExAC:
1:33248101 C / T
gnomAD v2:
1-33248101-C-T
gnomAD v3:
1-32782500-C-T
gnomAD v4:
1-32782500-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32782500C>T , CM000663.2:g.32782500C>T | GRCh38 |
| NC_000001.10:g.33248101C>T , CM000663.1:g.33248101C>T | GRCh37 |
| NC_000001.9:g.33020688C>T | NCBI36 |
| NG_008408.1:g.40533G>A , LRG_273:g.40533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.799G>A | ENSP00000502019.1:p.Ala267Thr | |
| ENST00000373477.9:c.946G>A MANE Select | ENSP00000362576.4:p.Ala316Thr | |
| ENST00000674629.1:c.*494G>A | ENSP00000502470.1:n.*494G>A | |
| ENST00000674654.1:c.*906G>A | ENSP00000501729.1:n.*906G>A | |
| ENST00000675785.1:c.799G>A | ENSP00000502019.1:p.Ala267Thr | |
| ENST00000676297.1:c.*1120G>A | ENSP00000501596.1:n.*1120G>A | |
| ENST00000373477.8:c.946G>A | ENSP00000362576.4:p.Ala316Thr | |
| ENST00000478828.1:n.413G>A | ||
| ENST00000487404.5:n.1256G>A | ||
| ENST00000616261.1:c.946G>A | ENSP00000484192.1:p.Ala316Thr | |
| NM_003680.3:c.946G>A , LRG_273t1:c.946G>A | NP_003671.1:p.Ala316Thr | |
| XM_011542347.1:c.316G>A | XP_011540649.1:p.Ala106Thr | |
| XM_011542348.1:c.316G>A | XP_011540650.1:p.Ala106Thr | |
| XM_011542347.2:c.316G>A | XP_011540649.1:p.Ala106Thr | |
| XM_017002651.2:c.316G>A | XP_016858140.1:p.Ala106Thr | |
| NM_003680.4:c.946G>A MANE Select | NP_003671.1:p.Ala316Thr |