Linked Data
ClinVar Variation Id:
454974
ClinVar RCV Id:
RCV000551561
dbSNP Id:
rs745800344
ExAC:
2:26667089 G / T
gnomAD v2:
2-26667089-G-T
gnomAD v3:
2-26444221-G-T
gnomAD v4:
2-26444221-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26444221G>T , CM000664.2:g.26444221G>T | GRCh38 |
| NC_000002.11:g.26667089G>T , CM000664.1:g.26667089G>T | GRCh37 |
| NC_000002.10:g.26520593G>T | NCBI36 |
| NG_042824.1:g.47310G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1029-1G>T MANE Select | ENSP00000288710.2:n.1029-1G>T | |
| ENST00000649059.1:c.875-1G>T | ||
| ENST00000288710.6:c.1029-1G>T | ENSP00000288710.2:n.1029-1G>T | |
| ENST00000421869.5:c.*342-1G>T | ENSP00000414375.1:n.*342-1G>T | |
| ENST00000442810.5:n.516-1G>T | ||
| ENST00000483675.1:n.630-1G>T | ||
| NM_145038.3:c.1029-1G>T | NP_659475.2:n.1029-1G>T | |
| NM_145038.4:c.1029-1G>T | NP_659475.2:n.1029-1G>T | |
| XM_005264637.3:c.411-1G>T | XP_005264694.1:n.411-1G>T | |
| XM_005264638.3:c.9-1G>T | XP_005264695.1:n.9-1G>T | |
| XM_017005271.1:c.9-1G>T | XP_016860760.1:n.9-1G>T | |
| XM_024453218.1:c.9-1G>T | XP_024308986.1:n.9-1G>T | |
| NM_145038.5:c.1029-1G>T MANE Select | NP_659475.2:n.1029-1G>T |