Linked Data
dbSNP Id:
rs1045643
gnomAD v2:
16-4931513-C-T
gnomAD v3:
16-4881512-C-T
gnomAD v4:
16-4881512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4881512C>T , CM000678.2:g.4881512C>T | GRCh38 |
| NC_000016.9:g.4931513C>T , CM000678.1:g.4931513C>T | GRCh37 |
| NC_000016.8:g.4871514C>T | NCBI36 |
| NG_051820.1:g.39848C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262376.11:c.*1380C>T MANE Select | ENSP00000262376.5:n.*1380C>T | |
| ENST00000262376.10:c.*1380C>T | ENSP00000262376.5:n.*1380C>T | |
| ENST00000396658.8:c.*1380C>T | ENSP00000379894.3:n.*1380C>T | |
| NM_001079514.2:c.*1380C>T | NP_001072982.1:n.*1380C>T | |
| NM_001288656.1:c.*1380C>T | NP_001275585.1:n.*1380C>T | |
| XM_011522465.1:c.*1262C>T | XP_011520767.1:n.*1262C>T | |
| XM_011522465.2:c.*1262C>T | XP_011520767.1:n.*1262C>T | |
| XM_017023189.2:c.*1380C>T | XP_016878678.1:n.*1380C>T | |
| XM_017023190.2:c.*1380C>T | XP_016878679.1:n.*1380C>T | |
| XM_017023191.1:c.*1380C>T | XP_016878680.1:n.*1380C>T | |
| NM_001079514.3:c.*1380C>T MANE Select | NP_001072982.1:n.*1380C>T |