Linked Data
ClinVar Variation Id:
346802
dbSNP Id:
rs36098294
gnomAD v2:
3-87276571-C-T
gnomAD v3:
3-87227421-C-T
gnomAD v4:
3-87227421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87227421C>T , CM000665.2:g.87227421C>T | GRCh38 |
| NC_000003.11:g.87276571C>T , CM000665.1:g.87276571C>T | GRCh37 |
| NC_000003.10:g.87359261C>T | NCBI36 |
| NG_007885.1:g.5159C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263780.9:c.-102C>T MANE Select | ENSP00000263780.4:n.-102C>T | |
| ENST00000472024.3:c.-185C>T | ENSP00000480032.2:n.-185C>T | |
| ENST00000676705.1:c.-181C>T | ENSP00000504098.1:n.-181C>T | |
| ENST00000676947.1:n.52C>T | ||
| ENST00000677929.1:n.137C>T | ||
| ENST00000678859.1:n.95C>T | ||
| ENST00000263780.8:c.-102C>T | ENSP00000263780.4:n.-102C>T | |
| ENST00000471660.5:c.-133C>T | ENSP00000419998.1:n.-133C>T | |
| ENST00000472024.2:c.-185C>T | ENSP00000480032.1:n.-185C>T | |
| ENST00000494980.5:c.-102C>T | ENSP00000418920.1:n.-102C>T | |
| NM_001244644.1:c.-133C>T | NP_001231573.1:n.-133C>T | |
| NM_014043.3:c.-102C>T | NP_054762.2:n.-102C>T | |
| NM_014043.4:c.-102C>T MANE Select | NP_054762.2:n.-102C>T | |
| NM_001244644.2:c.-133C>T | NP_001231573.1:n.-133C>T |