Linked Data
ClinVar Variation Id:
1765562
dbSNP Id:
rs780635568
ExAC:
16:67974227 G / A
gnomAD v2:
16-67974227-G-A
gnomAD v3:
16-67940324-G-A
gnomAD v4:
16-67940324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940324G>A , CM000678.2:g.67940324G>A | GRCh38 |
| NC_000016.9:g.67974227G>A , CM000678.1:g.67974227G>A | GRCh37 |
| NC_000016.8:g.66531728G>A | NCBI36 |
| NG_009778.1:g.8789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.903C>T MANE Select | ENSP00000264005.5:p.Asp301= | |
| ENST00000264005.9:c.903C>T | ENSP00000264005.5:p.Asp301= | |
| ENST00000570369.5:c.156-250C>T | ||
| ENST00000570980.1:c.687C>T | ENSP00000464651.1:p.Asp229= | |
| ENST00000573538.5:c.641C>T | ENSP00000463220.1:n.641C>T | |
| NM_000229.1:c.903C>T | NP_000220.1:p.Asp301= | |
| NM_000229.2:c.903C>T MANE Select | NP_000220.1:p.Asp301= |