Linked Data
ClinVar Variation Id:
2428547
ClinVar RCV Id:
RCV003120148
dbSNP Id:
rs34440919
gnomAD v3:
16-177070-C-A
gnomAD v4:
16-177070-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177070C>A , CM000678.2:g.177070C>A | GRCh38 |
| NC_000016.9:g.227069C>A , CM000678.1:g.227069C>A | GRCh37 |
| NC_000016.8:g.167069C>A | NCBI36 |
| NG_000006.1:g.37933C>A | |
| NG_059186.1:g.5420C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.237C>A MANE Select | ENSP00000322421.5:p.Asn79Lys | |
| ENST00000397797.1:c.141C>A | ENSP00000380899.1:p.Asn47Lys | |
| ENST00000472694.1:n.373C>A | ||
| ENST00000487791.1:n.206C>A | ||
| NM_000558.4:c.237C>A | NP_000549.1:p.Asn79Lys | |
| NM_000558.5:c.237C>A MANE Select | NP_000549.1:p.Asn79Lys |