Linked Data
ClinVar Variation Id:
719249
ClinVar RCV Id:
RCV000892358
dbSNP Id:
rs146641270
ExAC:
3:68782299 C / T
gnomAD v2:
3-68782299-C-T
gnomAD v3:
3-68733148-C-T
gnomAD v4:
3-68733148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.68733148C>T , CM000665.2:g.68733148C>T | GRCh38 |
| NC_000003.11:g.68782299C>T , CM000665.1:g.68782299C>T | GRCh37 |
| NC_000003.10:g.68864989C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295569.12:c.417G>A MANE Select | ENSP00000295569.7:p.Thr139= | |
| ENST00000295569.11:c.417G>A | ENSP00000295569.7:p.Thr139= | |
| NM_001005527.2:c.417G>A | NP_001005527.1:p.Thr139= | |
| NM_182522.4:c.417G>A | NP_872328.1:p.Thr139= | |
| XM_011533371.1:c.376G>A | XP_011531673.1:p.Ala126Thr | |
| XM_011533372.1:c.376G>A | XP_011531674.1:p.Ala126Thr | |
| NM_182522.5:c.417G>A MANE Select | NP_872328.1:p.Thr139= | |
| NM_001005527.3:c.417G>A | NP_001005527.1:p.Thr139= |