Linked Data
ClinVar Variation Id:
1570929
ClinVar RCV Id:
RCV002217322
dbSNP Id:
rs2129317166
gnomAD v4:
7-107696037-G-A
MyVariant Identifiers:
chr7:g.107336482G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696037G>A , CM000669.2:g.107696037G>A | GRCh38 |
| NC_000007.13:g.107336482G>A , CM000669.1:g.107336482G>A | GRCh37 |
| NC_000007.12:g.107123718G>A | NCBI36 |
| NG_008489.1:g.40403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1542G>A MANE Select | ENSP00000494017.1:p.Gln514= | |
| ENST00000644846.1:c.253G>A | ||
| ENST00000265715.7:c.1542G>A | ENSP00000265715.3:p.Gln514= | |
| ENST00000477350.5:n.389G>A | ||
| ENST00000480841.5:n.391G>A | ||
| ENST00000497446.5:n.557G>A | ||
| NM_000441.1:c.1542G>A | NP_000432.1:p.Gln514= | |
| XM_005250425.1:c.1542G>A | XP_005250482.1:p.Gln514= | |
| XM_005250425.2:c.1542G>A | XP_005250482.1:p.Gln514= | |
| XM_017012318.1:c.1464G>A | XP_016867807.1:p.Gln488= | |
| NM_000441.2:c.1542G>A MANE Select | NP_000432.1:p.Gln514= |