Linked Data
ClinVar Variation Id:
1657833
ClinVar RCV Id:
RCV002175760
dbSNP Id:
rs1188964676
gnomAD v2:
2-26647124-T-A
gnomAD v4:
2-26424256-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26424256T>A , CM000664.2:g.26424256T>A | GRCh38 |
| NC_000002.11:g.26647124T>A , CM000664.1:g.26647124T>A | GRCh37 |
| NC_000002.10:g.26500628T>A | NCBI36 |
| NG_042824.1:g.27345T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.357-15T>A MANE Select | ENSP00000288710.2:n.357-15T>A | |
| ENST00000649059.1:c.343-15T>A | ||
| ENST00000288710.6:c.357-15T>A | ENSP00000288710.2:n.357-15T>A | |
| ENST00000421869.5:c.356+2856T>A | ENSP00000414375.1:n.356+2856T>A | |
| ENST00000487307.5:n.247+2856T>A | ||
| ENST00000497651.1:n.247-15T>A | ||
| NM_145038.3:c.357-15T>A | NP_659475.2:n.357-15T>A | |
| NM_145038.4:c.357-15T>A | NP_659475.2:n.357-15T>A | |
| XM_005264637.3:c.-79+2856T>A | XP_005264694.1:n.-79+2856T>A | |
| XM_005264638.3:c.-341+2856T>A | XP_005264695.1:n.-341+2856T>A | |
| XM_017005271.1:c.-524-15T>A | XP_016860760.1:n.-524-15T>A | |
| XM_024453218.1:c.-341+2856T>A | XP_024308986.1:n.-341+2856T>A | |
| NM_145038.5:c.357-15T>A MANE Select | NP_659475.2:n.357-15T>A |