Linked Data
ClinVar Variation Id:
2346916
ClinVar RCV Id:
RCV002976804
dbSNP Id:
rs201835225
ExAC:
19:18001748 C / T
gnomAD v2:
19-18001748-C-T
gnomAD v3:
19-17890939-C-T
gnomAD v4:
19-17890939-C-T
COSMIC:
COSM1129954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17890939C>T , CM000681.2:g.17890939C>T | GRCh38 |
| NC_000019.9:g.18001748C>T , CM000681.1:g.18001748C>T | GRCh37 |
| NC_000019.8:g.17862748C>T | NCBI36 |
| NG_012930.1:g.23967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1705C>T MANE Select | ENSP00000222248.2:p.Arg569Trp | |
| ENST00000222248.3:c.1705C>T | ENSP00000222248.2:p.Arg569Trp | |
| NM_000453.2:c.1705C>T | NP_000444.1:p.Arg569Trp | |
| XM_011528192.1:c.1738C>T | XP_011526494.1:p.Arg580Trp | |
| XM_011528193.1:c.1471C>T | XP_011526495.1:p.Arg491Trp | |
| XM_011528194.1:c.1372C>T | XP_011526496.1:p.Arg458Trp | |
| XM_011528192.2:c.1738C>T | XP_011526494.1:p.Arg580Trp | |
| XM_011528193.3:c.1471C>T | XP_011526495.1:p.Arg491Trp | |
| XM_011528194.3:c.1372C>T | XP_011526496.1:p.Arg458Trp | |
| XM_017027158.1:c.1438C>T | XP_016882647.1:p.Arg480Trp | |
| NM_000453.3:c.1705C>T MANE Select | NP_000444.1:p.Arg569Trp |