Linked Data
dbSNP Id:
rs999074622
gnomAD v2:
3-190125825-C-T
gnomAD v3:
3-190408036-C-T
gnomAD v4:
3-190408036-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408036C>T , CM000665.2:g.190408036C>T | GRCh38 |
| NC_000003.11:g.190125825C>T , CM000665.1:g.190125825C>T | GRCh37 |
| NC_000003.10:g.191608519C>T | NCBI36 |
| NG_008149.1:g.24985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383-278C>T MANE Select | ENSP00000264734.3:n.383-278C>T | |
| ENST00000456423.2:c.115-1867C>T | ENSP00000414136.2:n.115-1867C>T | |
| ENST00000264734.2:c.593-278C>T | ENSP00000264734.2:n.593-278C>T | |
| ENST00000456423.1:c.325-1867C>T | ENSP00000414136.1:n.325-1867C>T | |
| NM_006580.3:c.593-278C>T | NP_006571.1:n.593-278C>T | |
| NM_001378492.1:c.383-278C>T | NP_001365421.1:n.383-278C>T | |
| NM_001378493.1:c.383-278C>T | NP_001365422.1:n.383-278C>T | |
| NM_006580.4:c.383-278C>T MANE Select | NP_006571.2:n.383-278C>T |