Linked Data
ClinVar Variation Id:
691515
ClinVar RCV Id:
RCV001004644
dbSNP Id:
rs745473179
gnomAD v4:
7-107695943-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695943T>A , CM000669.2:g.107695943T>A | GRCh38 |
| NC_000007.13:g.107336388T>A , CM000669.1:g.107336388T>A | GRCh37 |
| NC_000007.12:g.107123624T>A | NCBI36 |
| NG_008489.1:g.40309T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1448T>A MANE Select | ENSP00000494017.1:p.Val483Glu | |
| ENST00000644846.1:c.159T>A | ||
| ENST00000265715.7:c.1448T>A | ENSP00000265715.3:p.Val483Glu | |
| ENST00000460748.1:n.551T>A | ||
| ENST00000477350.5:n.295T>A | ||
| ENST00000480841.5:n.297T>A | ||
| ENST00000497446.5:n.463T>A | ||
| NM_000441.1:c.1448T>A | NP_000432.1:p.Val483Glu | |
| XM_005250425.1:c.1448T>A | XP_005250482.1:p.Val483Glu | |
| XM_005250425.2:c.1448T>A | XP_005250482.1:p.Val483Glu | |
| XM_017012318.1:c.1370T>A | XP_016867807.1:p.Val457Glu | |
| NM_000441.2:c.1448T>A MANE Select | NP_000432.1:p.Val483Glu |