Linked Data
ClinVar Variation Id:
18163
ClinVar RCV Id:
RCV000019793
dbSNP Id:
rs121434530
gnomAD v2:
22-42457044-G-A
gnomAD v4:
22-42061040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42061040G>A , CM000684.2:g.42061040G>A | GRCh38 |
| NC_000022.10:g.42457044G>A , CM000684.1:g.42457044G>A | GRCh37 |
| NC_000022.9:g.40786990G>A | NCBI36 |
| NG_009247.1:g.14803C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396398.8:c.985C>T MANE Select | ENSP00000379680.3:p.Arg329Trp | |
| ENST00000396398.7:c.985C>T | ENSP00000379680.3:p.Arg329Trp | |
| ENST00000402937.1:c.985C>T | ENSP00000384603.1:p.Arg329Trp | |
| ENST00000403363.5:c.985C>T | ENSP00000385283.1:p.Arg329Trp | |
| NM_000262.2:c.985C>T | NP_000253.1:p.Arg329Trp | |
| XM_005261615.3:c.985C>T | XP_005261672.1:p.Arg329Trp | |
| XM_005261616.3:c.985C>T | XP_005261673.1:p.Arg329Trp | |
| NM_001362848.1:c.985C>T | NP_001349777.1:p.Arg329Trp | |
| NM_001362850.1:c.985C>T | NP_001349779.1:p.Arg329Trp | |
| NM_000262.3:c.985C>T MANE Select | NP_000253.1:p.Arg329Trp |