Linked Data
ClinVar Variation Id:
1590525
ClinVar RCV Id:
RCV002103663
dbSNP Id:
rs766596963
ExAC:
5:174152050 G / A
gnomAD v2:
5-174152050-G-A
gnomAD v3:
5-174725047-G-A
gnomAD v4:
5-174725047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725047G>A , CM000667.2:g.174725047G>A | GRCh38 |
| NC_000005.9:g.174152050G>A , CM000667.1:g.174152050G>A | GRCh37 |
| NC_000005.8:g.174084656G>A | NCBI36 |
| NG_008124.1:g.5476G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.379+9G>A MANE Select | ENSP00000239243.5:n.379+9G>A | |
| ENST00000239243.6:c.379+9G>A | ENSP00000239243.5:n.379+9G>A | |
| ENST00000507785.2:c.388G>A | ENSP00000427425.1:p.Ala130Thr | |
| NM_002449.4:c.379+9G>A | NP_002440.2:n.379+9G>A | |
| NM_001363626.1:c.388G>A | NP_001350555.1:p.Ala130Thr | |
| NM_002449.5:c.379+9G>A MANE Select | NP_002440.2:n.379+9G>A | |
| NM_001363626.2:c.388G>A | NP_001350555.1:p.Ala130Thr |