Linked Data
ClinVar Variation Id:
299868
ClinVar RCV Id:
RCV000346198
dbSNP Id:
rs886046978
gnomAD v2:
10-27830173-C-T
gnomAD v3:
10-27541244-C-T
gnomAD v4:
10-27541244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27541244C>T , CM000672.2:g.27541244C>T | GRCh38 |
| NC_000010.10:g.27830173C>T , CM000672.1:g.27830173C>T | GRCh37 |
| NC_000010.9:g.27870179C>T | NCBI36 |
| NG_032035.1:g.42071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611151.5:c.*3602C>T | ENSP00000483927.2:n.*3602C>T | |
| ENST00000682082.1:c.*172-1509C>T | ENSP00000507542.1:n.*172-1509C>T | |
| ENST00000682347.1:c.68-1509C>T | ENSP00000508355.1:n.68-1509C>T | |
| ENST00000682777.1:n.4981C>T | ||
| ENST00000683030.1:c.151-1509C>T | ||
| ENST00000683915.1:c.154-1509C>T | ||
| ENST00000684191.1:c.68-758C>T | ENSP00000508185.1:n.68-758C>T | |
| ENST00000684457.1:c.151-758C>T | ||
| ENST00000356940.11:c.*3193C>T MANE Select | ENSP00000349415.7:n.*3193C>T | |
| ENST00000356940.10:c.*3193C>T | ENSP00000349415.6:n.*3193C>T | |
| ENST00000535776.5:c.*3193C>T | ENSP00000439321.1:n.*3193C>T | |
| ENST00000611151.4:c.*3193C>T | ENSP00000483927.1:n.*3193C>T | |
| ENST00000621805.4:c.3901C>T | ENSP00000478479.1:n.3901C>T | |
| NM_001256410.1:c.*3193C>T | NP_001243339.1:n.*3193C>T | |
| NM_001256411.1:c.*3153C>T | NP_001243340.1:n.*3153C>T | |
| NM_001256412.1:c.*3193C>T | NP_001243341.1:n.*3193C>T | |
| NM_001256415.1:c.*3193C>T | NP_001243344.1:n.*3193C>T | |
| NM_021252.4:c.*3193C>T | NP_067075.1:n.*3193C>T | |
| NR_046172.1:n.3948C>T | ||
| NM_001256410.2:c.*3193C>T | NP_001243339.1:n.*3193C>T | |
| NM_001256411.2:c.*3153C>T | NP_001243340.1:n.*3153C>T | |
| NM_001256412.2:c.*3193C>T | NP_001243341.1:n.*3193C>T | |
| NM_001256415.2:c.*3193C>T | NP_001243344.1:n.*3193C>T | |
| NM_021252.5:c.*3193C>T MANE Select | NP_067075.1:n.*3193C>T | |
| NR_046172.2:n.3818C>T |