Linked Data
ClinVar Variation Id:
2234768
ClinVar RCV Id:
RCV004096324
dbSNP Id:
rs1172237767
gnomAD v2:
7-143885101-C-T
gnomAD v3:
7-144188008-C-T
gnomAD v4:
7-144188008-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144188008C>T , CM000669.2:g.144188008C>T | GRCh38 |
| NC_000007.13:g.143885101C>T , CM000669.1:g.143885101C>T | GRCh37 |
| NC_000007.12:g.143516034C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688754.1:c.376G>A | ENSP00000510684.1:p.Ala126Thr | |
| ENST00000378115.3:c.376G>A MANE Select | ENSP00000367355.3:p.Ala126Thr | |
| ENST00000378115.2:c.376G>A | ENSP00000367355.2:p.Ala126Thr | |
| NM_001003702.2:c.376G>A | NP_001003702.2:p.Ala126Thr | |
| NM_001003702.3:c.376G>A MANE Select | NP_001003702.2:p.Ala126Thr | |
| NM_001368318.1:c.376G>A | NP_001355247.1:p.Ala126Thr |