Linked Data
ClinVar Variation Id:
532777
ClinVar RCV Id:
RCV000639676
dbSNP Id:
rs375667565
gnomAD v2:
12-111350928-G-T
gnomAD v4:
12-110913124-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913124G>T , CM000674.2:g.110913124G>T | GRCh38 |
| NC_000012.11:g.111350928G>T , CM000674.1:g.111350928G>T | GRCh37 |
| NC_000012.10:g.109835311G>T | NCBI36 |
| NG_007554.1:g.12454C>A , LRG_393:g.12454C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.374C>A MANE Select | ENSP00000228841.8:p.Thr125Lys | |
| ENST00000663220.1:c.317C>A | ENSP00000499568.1:p.Thr106Lys | |
| ENST00000228841.12:c.374C>A | ENSP00000228841.7:p.Thr125Lys | |
| ENST00000548438.1:c.332C>A | ENSP00000447154.1:p.Thr111Lys | |
| NM_000432.3:c.374C>A , LRG_393t1:c.374C>A | NP_000423.2:p.Thr125Lys | |
| NM_000432.4:c.374C>A MANE Select | NP_000423.2:p.Thr125Lys |