Linked Data
ClinVar Variation Id:
134472
dbSNP Id:
rs147528229
ExAC:
19:3110203 G / A
gnomAD v2:
19-3110203-G-A
gnomAD v3:
19-3110205-G-A
gnomAD v4:
19-3110205-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3110205G>A , CM000681.2:g.3110205G>A | GRCh38 |
| NC_000019.9:g.3110203G>A , CM000681.1:g.3110203G>A | GRCh37 |
| NC_000019.8:g.3061203G>A | NCBI36 |
| NG_033852.2:g.20796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.193G>A MANE Select | ENSP00000078429.3:p.Ala65Thr | |
| ENST00000078429.8:c.193G>A | ENSP00000078429.3:p.Ala65Thr | |
| ENST00000586763.1:n.140-3125G>A | ||
| NM_002067.4:c.193G>A | NP_002058.2:p.Ala65Thr | |
| NM_002067.5:c.193G>A MANE Select | NP_002058.2:p.Ala65Thr |