Linked Data
ClinVar Variation Id:
3044726
ClinVar RCV Id:
RCV003941894
dbSNP Id:
rs765882456
gnomAD v2:
5-56177397-G-A
gnomAD v3:
5-56881570-G-A
gnomAD v4:
5-56881570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881570G>A , CM000667.2:g.56881570G>A | GRCh38 |
| NC_000005.9:g.56177397G>A , CM000667.1:g.56177397G>A | GRCh37 |
| NC_000005.8:g.56213154G>A | NCBI36 |
| NG_031884.1:g.71498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2370G>A MANE Select | ENSP00000382423.3:p.Arg790= | |
| ENST00000399503.3:c.2370G>A | ENSP00000382423.3:p.Arg790= | |
| NM_005921.1:c.2370G>A | NP_005912.1:p.Arg790= | |
| XM_005248519.3:c.1992G>A | XP_005248576.2:p.Arg664= | |
| XM_011543406.1:c.2115G>A | XP_011541708.1:p.Arg705= | |
| XM_011543407.1:c.2091G>A | XP_011541709.1:p.Arg697= | |
| XM_011543408.1:c.2370G>A | XP_011541710.1:p.Arg790= | |
| XM_017009484.1:c.1959G>A | XP_016864973.1:p.Arg653= | |
| XM_017009485.1:c.1881G>A | XP_016864974.1:p.Arg627= | |
| XR_001742068.2:n.2401G>A | ||
| NM_005921.2:c.2370G>A MANE Select | NP_005912.1:p.Arg790= |