Linked Data
ClinVar Variation Id:
3670
ClinVar RCV Id:
RCV000003855
dbSNP Id:
rs28940888
ExAC:
16:67974096 G / A
gnomAD v2:
16-67974096-G-A
gnomAD v3:
16-67940193-G-A
gnomAD v4:
16-67940193-G-A
PubMed:
PMID:8432868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940193G>A , CM000678.2:g.67940193G>A | GRCh38 |
| NC_000016.9:g.67974096G>A , CM000678.1:g.67974096G>A | GRCh37 |
| NC_000016.8:g.66531597G>A | NCBI36 |
| NG_009778.1:g.8920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1034C>T MANE Select | ENSP00000264005.5:p.Thr345Met | |
| ENST00000264005.9:c.1034C>T | ENSP00000264005.5:p.Thr345Met | |
| ENST00000570369.5:c.156-119C>T | ||
| ENST00000573538.5:c.772C>T | ENSP00000463220.1:n.772C>T | |
| NM_000229.1:c.1034C>T | NP_000220.1:p.Thr345Met | |
| NM_000229.2:c.1034C>T MANE Select | NP_000220.1:p.Thr345Met |