Linked Data
gnomAD v4:
14-75707533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75707533C>T , CM000676.2:g.75707533C>T | GRCh38 |
| NC_000014.8:g.76173876C>T , CM000676.1:g.76173876C>T | GRCh37 |
| NC_000014.7:g.75243629C>T | NCBI36 |
| NG_016974.1:g.51326C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298832.14:c.656-90C>T MANE Select | ENSP00000298832.9:n.656-90C>T | |
| ENST00000286650.9:c.656-90C>T | ENSP00000286650.5:n.656-90C>T | |
| ENST00000298832.13:c.656-90C>T | ENSP00000298832.9:n.656-90C>T | |
| ENST00000555422.5:n.125-90C>T | ||
| ENST00000556173.5:n.582-90C>T | ||
| ENST00000557636.5:c.656-90C>T | ENSP00000450713.1:n.656-90C>T | |
| NM_015072.4:c.656-90C>T | NP_055887.3:n.656-90C>T | |
| NM_015072.5:c.656-90C>T MANE Select | NP_055887.3:n.656-90C>T |