Linked Data
gnomAD v4:
1-46413818-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413818C>A , CM000663.2:g.46413818C>A | GRCh38 |
| NC_000001.10:g.46879490C>A , CM000663.1:g.46879490C>A | GRCh37 |
| NC_000001.9:g.46652077C>A | NCBI36 |
| NG_012195.1:g.24552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.*243C>A MANE Select | ENSP00000243167.8:n.*243C>A | |
| ENST00000243167.8:c.*243C>A | ENSP00000243167.8:n.*243C>A | |
| ENST00000484697.5:c.1016C>A | ||
| NM_001441.2:c.*243C>A | NP_001432.2:n.*243C>A | |
| NM_001441.3:c.*243C>A MANE Select | NP_001432.2:n.*243C>A |