Linked Data
ClinVar Variation Id:
15765
dbSNP Id:
rs34090856
gnomAD v2:
16-226732-C-A
gnomAD v3:
16-176733-C-A
gnomAD v4:
16-176733-C-A
PubMed:
PMID:5870555
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176733C>A , CM000678.2:g.176733C>A | GRCh38 |
| NC_000016.9:g.226732C>A , CM000678.1:g.226732C>A | GRCh37 |
| NC_000016.8:g.166732C>A | NCBI36 |
| NG_000006.1:g.37596C>A | |
| NG_059186.1:g.5083C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.17C>A MANE Select | ENSP00000322421.5:p.Ala6Asp | |
| ENST00000397797.1:c.-31C>A | ENSP00000380899.1:n.-31C>A | |
| ENST00000472694.1:n.36C>A | ||
| NM_000558.4:c.17C>A | NP_000549.1:p.Ala6Asp | |
| NM_000558.5:c.17C>A MANE Select | NP_000549.1:p.Ala6Asp |