Linked Data
gnomAD v4:
8-81478543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478543C>A , CM000670.2:g.81478543C>A | GRCh38 |
| NC_000008.10:g.82390778C>A , CM000670.1:g.82390778C>A | GRCh37 |
| NC_000008.9:g.82553333C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*322G>T MANE Select | ENSP00000256104.4:n.*322G>T | |
| ENST00000256104.4:c.*322G>T | ENSP00000256104.4:n.*322G>T | |
| NM_001442.2:c.*322G>T | NP_001433.1:n.*322G>T | |
| XR_001745980.1:n.514+16569C>A | ||
| NM_001442.3:c.*322G>T MANE Select | NP_001433.1:n.*322G>T |