Linked Data
gnomAD v4:
10-80275289-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275289A>T , CM000672.2:g.80275289A>T | GRCh38 |
| NC_000010.10:g.82035045A>T , CM000672.1:g.82035045A>T | GRCh37 |
| NC_000010.9:g.82025025A>T | NCBI36 |
| NG_008083.1:g.19390T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.769-90T>A MANE Select | ENSP00000361287.3:n.769-90T>A | |
| ENST00000372213.7:c.769-90T>A | ENSP00000361287.3:n.769-90T>A | |
| ENST00000485270.5:n.191T>A | ||
| NM_000429.2:c.769-90T>A | NP_000420.1:n.769-90T>A | |
| XM_005269842.3:c.769-90T>A | XP_005269899.1:n.769-90T>A | |
| XM_005269843.3:c.646-90T>A | XP_005269900.1:n.646-90T>A | |
| NM_000429.3:c.769-90T>A MANE Select | NP_000420.1:n.769-90T>A |