Linked Data
ClinVar Variation Id:
235232
dbSNP Id:
rs76253513
ExAC:
16:69364990 G / A
gnomAD v2:
16-69364990-G-A
gnomAD v3:
16-69331087-G-A
gnomAD v4:
16-69331087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69331087G>A , CM000678.2:g.69331087G>A | GRCh38 |
| NC_000016.9:g.69364990G>A , CM000678.1:g.69364990G>A | GRCh37 |
| NC_000016.8:g.67922491G>A | NCBI36 |
| NG_009013.1:g.13537C>T | |
| NG_033043.1:g.4509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.1591C>T MANE Select | ENSP00000305459.6:p.Pro531Ser | |
| ENST00000306875.8:c.1591C>T | ENSP00000305459.4:p.Pro531Ser | |
| ENST00000562595.5:c.549+4239C>T | ||
| ENST00000562949.1:c.352-1908C>T | ENSP00000457718.1:n.352-1908C>T | |
| NM_032382.4:c.1591C>T | NP_115758.3:p.Pro531Ser | |
| NM_032382.5:c.1591C>T MANE Select | NP_115758.3:p.Pro531Ser | |
| NM_001379261.1:c.1732C>T | NP_001366190.1:p.Pro578Ser | |
| NM_001379262.1:c.1591C>T | NP_001366191.1:p.Pro531Ser | |
| NM_001379263.1:c.1630C>T | NP_001366192.1:p.Pro544Ser | |
| NM_001379264.1:c.1591C>T | NP_001366193.1:p.Pro531Ser | |
| NM_001379265.1:c.1582+1627C>T | NP_001366194.1:n.1582+1627C>T | |
| NM_001379266.1:c.1414-1908C>T | NP_001366195.1:n.1414-1908C>T |