Linked Data
ClinVar Variation Id:
155821
dbSNP Id:
rs587782968
ExAC:
20:30412085 C / A
gnomAD v2:
20-30412085-C-A
gnomAD v3:
20-31824282-C-A
gnomAD v4:
20-31824282-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31824282C>A , CM000682.2:g.31824282C>A | GRCh38 |
| NC_000020.10:g.30412085C>A , CM000682.1:g.30412085C>A | GRCh37 |
| NC_000020.9:g.29875746C>A | NCBI36 |
| NG_012847.1:g.9908C>A , LRG_392:g.9908C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375985.5:c.902C>A MANE Select | ENSP00000365152.4:p.Thr301Asn | |
| ENST00000375985.4:c.902C>A | ENSP00000365152.4:p.Thr301Asn | |
| ENST00000375994.6:c.902C>A | ENSP00000365162.2:p.Thr301Asn | |
| NM_033118.3:c.902C>A , LRG_392t1:c.902C>A | NP_149109.1:p.Thr301Asn | |
| XR_244155.1:n.1268C>A | ||
| NM_033118.4:c.902C>A MANE Select | NP_149109.1:p.Thr301Asn |