Linked Data
ClinVar Variation Id:
381978
ClinVar RCV Id:
RCV000433923
dbSNP Id:
rs773254646
ExAC:
17:70119946 G / A
gnomAD v2:
17-70119946-G-A
gnomAD v3:
17-72123805-G-A
gnomAD v4:
17-72123805-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123805G>A , CM000679.2:g.72123805G>A | GRCh38 |
| NC_000017.10:g.70119946G>A , CM000679.1:g.70119946G>A | GRCh37 |
| NC_000017.9:g.67631541G>A | NCBI36 |
| NG_012490.1:g.7786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.948G>A MANE Select | ENSP00000245479.2:p.Thr316= | |
| ENST00000245479.2:c.948G>A | ENSP00000245479.2:p.Thr316= | |
| NM_000346.3:c.948G>A | NP_000337.1:p.Thr316= | |
| NM_000346.4:c.948G>A MANE Select | NP_000337.1:p.Thr316= |