Linked Data
dbSNP Id:
rs2383378
gnomAD v2:
14-33282470-C-T
gnomAD v3:
14-32813264-C-T
gnomAD v4:
14-32813264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32813264C>T , CM000676.2:g.32813264C>T | GRCh38 |
| NC_000014.8:g.33282470C>T , CM000676.1:g.33282470C>T | GRCh37 |
| NC_000014.7:g.32352221C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280979.9:c.3589-8138C>T MANE Select | ENSP00000280979.4:n.3589-8138C>T | |
| ENST00000280979.8:c.3589-8138C>T | ENSP00000280979.4:n.3589-8138C>T | |
| ENST00000557272.1:c.3589-16584C>T | ENSP00000451247.1:n.3589-16584C>T | |
| NM_004274.4:c.3589-8138C>T | NP_004265.3:n.3589-8138C>T | |
| XM_005268219.3:c.3592-8138C>T | XP_005268276.1:n.3592-8138C>T | |
| XM_011537378.1:c.877-8138C>T | XP_011535680.1:n.877-8138C>T | |
| XM_011537379.1:c.808-8138C>T | XP_011535681.1:n.808-8138C>T | |
| XM_011537380.1:c.808-8138C>T | XP_011535682.1:n.808-8138C>T | |
| XM_011537381.1:c.658-8138C>T | XP_011535683.1:n.658-8138C>T | |
| XM_011537382.1:c.658-8138C>T | XP_011535684.1:n.658-8138C>T | |
| XM_011537383.1:c.574-8138C>T | XP_011535685.1:n.574-8138C>T | |
| XM_011537378.3:c.877-8138C>T | XP_011535680.1:n.877-8138C>T | |
| XM_011537379.3:c.808-8138C>T | XP_011535681.1:n.808-8138C>T | |
| XM_011537383.3:c.574-8138C>T | XP_011535685.1:n.574-8138C>T | |
| XM_017021808.2:c.3592-8138C>T | XP_016877297.1:n.3592-8138C>T | |
| XM_017021811.2:c.877-8138C>T | XP_016877300.1:n.877-8138C>T | |
| XM_024449754.1:c.3592-8138C>T | XP_024305522.1:n.3592-8138C>T | |
| XM_024449755.1:c.3592-8138C>T | XP_024305523.1:n.3592-8138C>T | |
| XM_024449756.1:c.3592-8138C>T | XP_024305524.1:n.3592-8138C>T | |
| XM_024449757.1:c.3592-8138C>T | XP_024305525.1:n.3592-8138C>T | |
| NM_004274.5:c.3589-8138C>T MANE Select | NP_004265.3:n.3589-8138C>T |