Linked Data
gnomAD v4:
10-133539044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539044C>T , CM000672.2:g.133539044C>T | GRCh38 |
| NC_000010.10:g.135352548C>T , CM000672.1:g.135352548C>T | GRCh37 |
| NC_000010.9:g.135202538C>T | NCBI36 |
| NG_008383.1:g.16682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.*80C>T MANE Select | ENSP00000252945.3:n.*80C>T | |
| ENST00000252945.7:c.*80C>T | ENSP00000252945.3:n.*80C>T | |
| ENST00000368520.1:n.1358+1152C>T | ||
| ENST00000463117.6:c.*80C>T | ENSP00000440689.1:n.*80C>T | |
| ENST00000469258.1:n.658C>T | ||
| NM_000773.3:c.*80C>T | NP_000764.1:n.*80C>T | |
| NM_000773.4:c.*80C>T MANE Select | NP_000764.1:n.*80C>T |