Linked Data
ClinVar Variation Id:
1493770
ClinVar RCV Id:
RCV001986730
dbSNP Id:
rs369317401
ExAC:
16:28997459 C / T
gnomAD v2:
16-28997459-C-T
gnomAD v3:
16-28986138-C-T
gnomAD v4:
16-28986138-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28986138C>T , CM000678.2:g.28986138C>T | GRCh38 |
| NC_000016.9:g.28997459C>T , CM000678.1:g.28997459C>T | GRCh37 |
| NC_000016.8:g.28904960C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.420C>T | ||
| ENST00000354453.7:n.519C>T | ||
| ENST00000395456.7:c.167C>T MANE Select | ENSP00000378841.3:p.Thr56Met | |
| ENST00000360872.9:c.167C>T | ENSP00000354119.5:p.Thr56Met | |
| ENST00000395456.6:c.167C>T | ENSP00000378841.2:p.Thr56Met | |
| ENST00000395461.7:c.275C>T | ENSP00000378845.3:p.Thr92Met | |
| ENST00000454369.6:c.167C>T | ENSP00000398793.2:p.Thr56Met | |
| ENST00000562472.5:n.521C>T | ||
| ENST00000562701.5:c.167C>T | ENSP00000454793.1:p.Thr56Met | |
| ENST00000563964.5:n.516-247C>T | ||
| ENST00000564277.5:c.167C>T | ENSP00000457036.1:p.Thr56Met | |
| ENST00000566177.5:c.167C>T | ENSP00000456761.1:p.Thr56Met | |
| ENST00000566270.5:n.782C>T | ||
| ENST00000568440.1:n.40C>T | ||
| ENST00000568899.5:n.51C>T | ||
| ENST00000630764.2:c.167C>T | ENSP00000488120.1:p.Thr56Met | |
| NM_001014987.1:c.167C>T | NP_001014987.1:p.Thr56Met | |
| NM_001014988.1:c.167C>T | NP_001014988.1:p.Thr56Met | |
| NM_001014989.1:c.275C>T | NP_001014989.2:p.Thr92Met | |
| NM_014387.3:c.167C>T | NP_055202.1:p.Thr56Met | |
| NM_001014987.2:c.167C>T MANE Select | NP_001014987.1:p.Thr56Met | |
| NM_001014988.2:c.167C>T | NP_001014988.1:p.Thr56Met | |
| NM_001014989.2:c.275C>T | NP_001014989.2:p.Thr92Met | |
| NM_014387.4:c.167C>T | NP_055202.1:p.Thr56Met |