Linked Data
gnomAD v4:
1-40784048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784048C>A , CM000663.2:g.40784048C>A | GRCh38 |
| NC_000001.10:g.41249720C>A , CM000663.1:g.41249720C>A | GRCh37 |
| NC_000001.9:g.41022307C>A | NCBI36 |
| NG_008139.1:g.5037C>A | |
| NG_008139.2:g.5037C>A | |
| NG_008139.3:g.5262C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-46C>A MANE Select | ENSP00000262916.6:n.-46C>A | |
| ENST00000347132.9:c.-46C>A | ENSP00000262916.6:n.-46C>A | |
| NM_004700.3:c.-46C>A | NP_004691.2:n.-46C>A | |
| NM_172163.2:c.-46C>A | NP_751895.1:n.-46C>A | |
| NM_004700.4:c.-46C>A MANE Select | NP_004691.2:n.-46C>A | |
| NM_172163.3:c.-46C>A | NP_751895.1:n.-46C>A |