Linked Data
gnomAD v4:
4-186085286-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085286A>T , CM000666.2:g.186085286A>T | GRCh38 |
| NC_000004.11:g.187006440A>T , CM000666.1:g.187006440A>T | GRCh37 |
| NC_000004.10:g.187243434A>T | NCBI36 |
| NG_007278.1:g.21132A>T , LRG_117:g.21132A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*2680A>T | ENSP00000513675.1:n.*2680A>T | |
| ENST00000698353.1:n.3003A>T | ||
| ENST00000698354.1:c.*413A>T | ENSP00000513676.1:n.*413A>T | |
| ENST00000296795.8:c.*413A>T MANE Select | ENSP00000296795.3:n.*413A>T | |
| ENST00000296795.7:c.*413A>T | ENSP00000296795.2:n.*413A>T | |
| NM_003265.3:c.*413A>T MANE Select | NP_003256.1:n.*413A>T |