Linked Data
dbSNP Id:
rs1166528869
gnomAD v2:
1-193221046-C-T
gnomAD v3:
1-193251916-C-T
gnomAD v4:
1-193251916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251916C>T , CM000663.2:g.193251916C>T | GRCh38 |
| NC_000001.10:g.193221046C>T , CM000663.1:g.193221046C>T | GRCh37 |
| NC_000001.9:g.191487669C>T | NCBI36 |
| NG_012691.1:g.134959C>T , LRG_507:g.134959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1204C>T MANE Select | ENSP00000356405.4:n.*1204C>T | |
| ENST00000635846.1:c.*1204C>T | ENSP00000490035.1:n.*1204C>T | |
| ENST00000643006.1:c.*1710C>T | ENSP00000496633.1:n.*1710C>T | |
| ENST00000367435.3:c.*1204C>T | ENSP00000356405.3:n.*1204C>T | |
| NM_024529.4:c.*1204C>T , LRG_507t1:c.*1204C>T | NP_078805.3:n.*1204C>T | |
| NM_024529.5:c.*1204C>T MANE Select | NP_078805.3:n.*1204C>T |