Linked Data
ClinVar Variation Id:
2694311
ClinVar RCV Id:
RCV003544093
gnomAD v4:
19-17890939-C-A
MyVariant Identifiers:
chr19:g.18001748C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17890939C>A , CM000681.2:g.17890939C>A | GRCh38 |
| NC_000019.9:g.18001748C>A , CM000681.1:g.18001748C>A | GRCh37 |
| NC_000019.8:g.17862748C>A | NCBI36 |
| NG_012930.1:g.23967C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1705C>A MANE Select | ENSP00000222248.2:p.Arg569= | |
| ENST00000222248.3:c.1705C>A | ENSP00000222248.2:p.Arg569= | |
| NM_000453.2:c.1705C>A | NP_000444.1:p.Arg569= | |
| XM_011528192.1:c.1738C>A | XP_011526494.1:p.Arg580= | |
| XM_011528193.1:c.1471C>A | XP_011526495.1:p.Arg491= | |
| XM_011528194.1:c.1372C>A | XP_011526496.1:p.Arg458= | |
| XM_011528192.2:c.1738C>A | XP_011526494.1:p.Arg580= | |
| XM_011528193.3:c.1471C>A | XP_011526495.1:p.Arg491= | |
| XM_011528194.3:c.1372C>A | XP_011526496.1:p.Arg458= | |
| XM_017027158.1:c.1438C>A | XP_016882647.1:p.Arg480= | |
| NM_000453.3:c.1705C>A MANE Select | NP_000444.1:p.Arg569= |