Linked Data
ClinVar Variation Id:
505290
ClinVar RCV Id:
RCV000612894
dbSNP Id:
rs1554358492
gnomAD v4:
7-107689041-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689041A>G , CM000669.2:g.107689041A>G | GRCh38 |
| NC_000007.13:g.107329486A>G , CM000669.1:g.107329486A>G | GRCh37 |
| NC_000007.12:g.107116722A>G | NCBI36 |
| NG_008489.1:g.33407A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1002-12A>G MANE Select | ENSP00000494017.1:n.1002-12A>G | |
| ENST00000265715.7:c.1002-12A>G | ENSP00000265715.3:n.1002-12A>G | |
| NM_000441.1:c.1002-12A>G | NP_000432.1:n.1002-12A>G | |
| XM_005250425.1:c.1002-12A>G | XP_005250482.1:n.1002-12A>G | |
| XM_006716025.2:c.1002-12A>G | XP_006716088.1:n.1002-12A>G | |
| XM_005250425.2:c.1002-12A>G | XP_005250482.1:n.1002-12A>G | |
| XM_006716025.3:c.1002-12A>G | XP_006716088.1:n.1002-12A>G | |
| XM_017012318.1:c.1002-12A>G | XP_016867807.1:n.1002-12A>G | |
| NM_000441.2:c.1002-12A>G MANE Select | NP_000432.1:n.1002-12A>G |