Linked Data
ClinVar Variation Id:
3057334
ClinVar RCV Id:
RCV003974210
dbSNP Id:
rs764517506
ExAC:
16:67470060 C / A
gnomAD v2:
16-67470060-C-A
gnomAD v4:
16-67436157-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436157C>A , CM000678.2:g.67436157C>A | GRCh38 |
| NC_000016.9:g.67470060C>A , CM000678.1:g.67470060C>A | GRCh37 |
| NC_000016.8:g.66027561C>A | NCBI36 |
| NG_011482.1:g.50030G>T | |
| NG_016549.1:g.10025C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.664+15C>A MANE Select | ENSP00000316786.5:n.664+15C>A | |
| ENST00000326152.5:c.664+15C>A | ENSP00000316786.5:n.664+15C>A | |
| ENST00000567684.2:n.527+15C>A | ||
| NM_000196.3:c.664+15C>A | NP_000187.3:n.664+15C>A | |
| NM_000196.4:c.664+15C>A MANE Select | NP_000187.3:n.664+15C>A |