Linked Data
ClinVar Variation Id:
381686
ClinVar RCV Id:
RCV000431089
dbSNP Id:
rs1057521147
gnomAD v4:
7-107696044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696044G>A , CM000669.2:g.107696044G>A | GRCh38 |
| NC_000007.13:g.107336489G>A , CM000669.1:g.107336489G>A | GRCh37 |
| NC_000007.12:g.107123725G>A | NCBI36 |
| NG_008489.1:g.40410G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1544+5G>A MANE Select | ENSP00000494017.1:n.1544+5G>A | |
| ENST00000644846.1:c.255+5G>A | ||
| ENST00000265715.7:c.1544+5G>A | ENSP00000265715.3:n.1544+5G>A | |
| ENST00000477350.5:n.391+5G>A | ||
| ENST00000480841.5:n.393+5G>A | ||
| NM_000441.1:c.1544+5G>A | NP_000432.1:n.1544+5G>A | |
| XM_005250425.1:c.1544+5G>A | XP_005250482.1:n.1544+5G>A | |
| XM_005250425.2:c.1544+5G>A | XP_005250482.1:n.1544+5G>A | |
| XM_017012318.1:c.1466+5G>A | XP_016867807.1:n.1466+5G>A | |
| NM_000441.2:c.1544+5G>A MANE Select | NP_000432.1:n.1544+5G>A |