Linked Data
ClinVar Variation Id:
207886
ClinVar RCV Id:
RCV000190171
dbSNP Id:
rs752607432
ExAC:
16:67964842 C / T
gnomAD v2:
16-67964842-C-T
gnomAD v3:
16-67930939-C-T
gnomAD v4:
16-67930939-C-T
PubMed:
PMID:26132555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67930939C>T , CM000678.2:g.67930939C>T | GRCh38 |
| NC_000016.9:g.67964842C>T , CM000678.1:g.67964842C>T | GRCh37 |
| NC_000016.8:g.66522343C>T | NCBI36 |
| NG_051639.1:g.5937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574481.6:c.217G>A MANE Select | ENSP00000458537.2:p.Ala73Thr | |
| ENST00000571044.5:c.217G>A | ENSP00000461842.1:p.Ala73Thr | |
| ENST00000571605.1:c.113G>A | ENSP00000458598.1:p.Cys38Tyr | |
| ENST00000572144.5:n.1427G>A | ||
| ENST00000573493.1:c.559G>A | ||
| ENST00000574481.5:c.217G>A | ENSP00000458537.2:p.Ala73Thr | |
| ENST00000575231.1:n.4586G>A | ||
| ENST00000576408.1:n.374G>A | ||
| ENST00000576915.1:n.547G>A | ||
| NM_001907.2:c.217G>A | NP_001898.1:p.Ala73Thr | |
| NM_001907.3:c.217G>A MANE Select | NP_001898.1:p.Ala73Thr |