Linked Data
ClinVar Variation Id:
1186374
ClinVar RCV Id:
RCV001545447
dbSNP Id:
rs74452364
gnomAD v2:
4-52893876-T-A
gnomAD v3:
4-52027710-T-A
gnomAD v4:
4-52027710-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027710T>A , CM000666.2:g.52027710T>A | GRCh38 |
| NC_000004.11:g.52893876T>A , CM000666.1:g.52893876T>A | GRCh37 |
| NC_000004.10:g.52588633T>A | NCBI36 |
| NG_008891.1:g.15610A>T , LRG_204:g.15610A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.753+258A>T MANE Select | ENSP00000370839.6:n.753+258A>T | |
| ENST00000381431.9:c.753+258A>T | ENSP00000370839.5:n.753+258A>T | |
| NM_000232.4:c.753+258A>T , LRG_204t1:c.753+258A>T | NP_000223.1:n.753+258A>T | |
| XM_006714049.2:c.456+258A>T | XP_006714112.1:n.456+258A>T | |
| XM_011534403.1:c.543+258A>T | XP_011532705.1:n.543+258A>T | |
| XM_011534404.1:c.456+258A>T | XP_011532706.1:n.456+258A>T | |
| NM_000232.5:c.753+258A>T MANE Select | NP_000223.1:n.753+258A>T |