Linked Data
dbSNP Id:
rs529474029
gnomAD v2:
6-150720165-C-T
gnomAD v3:
6-150399029-C-T
gnomAD v4:
6-150399029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150399029C>T , CM000668.2:g.150399029C>T | GRCh38 |
| NC_000006.11:g.150720165C>T , CM000668.1:g.150720165C>T | GRCh37 |
| NC_000006.10:g.150761858C>T | NCBI36 |
| NG_016007.1:g.35138C>T | |
| NG_016007.2:g.35138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.*792C>T MANE Select | ENSP00000343763.4:n.*792C>T | |
| ENST00000229447.9:c.*892C>T | ENSP00000229447.5:n.*892C>T | |
| ENST00000344419.7:c.*792C>T | ENSP00000343763.3:n.*792C>T | |
| NM_001164694.1:c.*892C>T | NP_001158166.1:n.*892C>T | |
| NM_001164695.1:c.*979C>T | NP_001158167.1:n.*979C>T | |
| NM_203395.2:c.*792C>T | NP_981932.1:n.*792C>T | |
| NM_001318495.1:c.*792C>T | NP_001305424.1:n.*792C>T | |
| NR_134655.1:n.1975C>T | ||
| NM_001164694.2:c.*892C>T | NP_001158166.1:n.*892C>T | |
| NM_001164695.2:c.*979C>T | NP_001158167.1:n.*979C>T | |
| NM_001318495.2:c.*792C>T | NP_001305424.1:n.*792C>T | |
| NM_203395.3:c.*792C>T MANE Select | NP_981932.1:n.*792C>T | |
| NR_134655.2:n.1855C>T |