Linked Data
dbSNP Id:
rs545436346
gnomAD v2:
10-64370051-C-T
gnomAD v3:
10-62610292-C-T
gnomAD v4:
10-62610292-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62610292C>T , CM000672.2:g.62610292C>T | GRCh38 |
| NC_000010.10:g.64370051C>T , CM000672.1:g.64370051C>T | GRCh37 |
| NC_000010.9:g.64040057C>T | NCBI36 |
| NG_021209.1:g.241136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.982-12811C>T | ENSP00000502188.1:n.982-12811C>T | |
| ENST00000395251.5:c.-184-33450C>T | ENSP00000378672.1:n.-184-33450C>T | |
| ENST00000410046.7:c.982-12811C>T | ENSP00000387091.3:n.982-12811C>T | |
| NM_199451.2:c.982-12811C>T | NP_955523.1:n.982-12811C>T | |
| NM_199452.3:c.-184-33450C>T | NP_955524.3:n.-184-33450C>T | |
| NM_199451.3:c.982-12811C>T | NP_955523.1:n.982-12811C>T |