Linked Data
ClinVar Variation Id:
1388745
dbSNP Id:
rs148227405
ExAC:
19:6682236 G / A
gnomAD v2:
19-6682236-G-A
gnomAD v3:
19-6682225-G-A
gnomAD v4:
19-6682225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682225G>A , CM000681.2:g.6682225G>A | GRCh38 |
| NC_000019.9:g.6682236G>A , CM000681.1:g.6682236G>A | GRCh37 |
| NC_000019.8:g.6633236G>A | NCBI36 |
| NG_009557.1:g.43427C>T , LRG_27:g.43427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2525C>T | ||
| ENST00000695653.1:c.2086C>T | ENSP00000512084.1:p.Arg696Trp | |
| ENST00000695654.1:c.3202C>T | ENSP00000512085.1:p.Arg1068Trp | |
| ENST00000695689.1:c.148C>T | ENSP00000512101.1:n.148C>T | |
| ENST00000695690.1:n.368C>T | ||
| ENST00000695691.1:n.368C>T | ||
| ENST00000245907.11:c.4177C>T MANE Select | ENSP00000245907.4:p.Arg1393Trp | |
| ENST00000245907.10:c.4177C>T | ENSP00000245907.4:p.Arg1393Trp | |
| ENST00000596548.1:c.298C>T | ENSP00000469744.1:p.Arg100Trp | |
| ENST00000599899.5:n.1136C>T | ||
| ENST00000601008.1:c.242-4267C>T | ENSP00000471384.1:n.242-4267C>T | |
| NM_000064.3:c.4177C>T | NP_000055.2:p.Arg1393Trp | |
| NM_000064.4:c.4177C>T MANE Select | NP_000055.2:p.Arg1393Trp |