Linked Data
ClinVar Variation Id:
293423
ClinVar RCV Id:
RCV000403532
dbSNP Id:
rs373953344
gnomAD v2:
1-16459997-G-A
gnomAD v3:
1-16133502-G-A
gnomAD v4:
1-16133502-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16133502G>A , CM000663.2:g.16133502G>A | GRCh38 |
| NC_000001.10:g.16459997G>A , CM000663.1:g.16459997G>A | GRCh37 |
| NC_000001.9:g.16332584G>A | NCBI36 |
| NG_021396.1:g.27586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1843C>T MANE Select | ENSP00000351209.5:p.Arg615Trp | |
| ENST00000358432.7:c.1843C>T | ENSP00000351209.5:p.Arg615Trp | |
| ENST00000462805.1:n.61C>T | ||
| NM_004431.3:c.1843C>T | NP_004422.2:p.Arg615Trp | |
| NM_001329090.1:c.1681C>T | NP_001316019.1:p.Arg561Trp | |
| NM_004431.4:c.1843C>T | NP_004422.2:p.Arg615Trp | |
| NM_004431.5:c.1843C>T MANE Select | NP_004422.2:p.Arg615Trp | |
| NM_001329090.2:c.1681C>T | NP_001316019.1:p.Arg561Trp |