Linked Data
ClinVar Variation Id:
1185674
ClinVar RCV Id:
RCV001823283
dbSNP Id:
rs1791494228
gnomAD v3:
7-107689053-G-T
gnomAD v4:
7-107689053-G-T
MyVariant Identifiers:
chr7:g.107329498G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689053G>T , CM000669.2:g.107689053G>T | GRCh38 |
| NC_000007.13:g.107329498G>T , CM000669.1:g.107329498G>T | GRCh37 |
| NC_000007.12:g.107116734G>T | NCBI36 |
| NG_008489.1:g.33419G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1002G>T MANE Select | ENSP00000494017.1:p.Gly334= | |
| ENST00000265715.7:c.1002G>T | ENSP00000265715.3:p.Gly334= | |
| NM_000441.1:c.1002G>T | NP_000432.1:p.Gly334= | |
| XM_005250425.1:c.1002G>T | XP_005250482.1:p.Gly334= | |
| XM_006716025.2:c.1002G>T | XP_006716088.1:p.Gly334= | |
| XM_005250425.2:c.1002G>T | XP_005250482.1:p.Gly334= | |
| XM_006716025.3:c.1002G>T | XP_006716088.1:p.Gly334= | |
| XM_017012318.1:c.1002G>T | XP_016867807.1:p.Gly334= | |
| NM_000441.2:c.1002G>T MANE Select | NP_000432.1:p.Gly334= |