Linked Data
gnomAD v4:
4-71030656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030656C>T , CM000666.2:g.71030656C>T | GRCh38 |
| NC_000004.11:g.71896373C>T , CM000666.1:g.71896373C>T | GRCh37 |
| NC_000004.10:g.72115237C>T | NCBI36 |
| NG_023303.1:g.42109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1278C>T MANE Select | ENSP00000286648.5:n.*1278C>T | |
| ENST00000286648.9:c.*1278C>T | ENSP00000286648.5:n.*1278C>T | |
| ENST00000503359.5:c.*2005C>T | ENSP00000426389.1:n.*2005C>T | |
| ENST00000504730.5:c.*1345C>T | ENSP00000425578.1:n.*1345C>T | |
| ENST00000504952.1:c.*1204C>T | ENSP00000421508.1:n.*1204C>T | |
| NM_000788.2:c.*1278C>T | NP_000779.1:n.*1278C>T | |
| NM_000788.3:c.*1278C>T MANE Select | NP_000779.1:n.*1278C>T |