Linked Data
gnomAD v4:
1-46413797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413797A>G , CM000663.2:g.46413797A>G | GRCh38 |
| NC_000001.10:g.46879469A>G , CM000663.1:g.46879469A>G | GRCh37 |
| NC_000001.9:g.46652056A>G | NCBI36 |
| NG_012195.1:g.24531A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243167.9:c.*222A>G MANE Select | ENSP00000243167.8:n.*222A>G | |
| ENST00000243167.8:c.*222A>G | ENSP00000243167.8:n.*222A>G | |
| ENST00000484697.5:c.995A>G | ||
| NM_001441.2:c.*222A>G | NP_001432.2:n.*222A>G | |
| NM_001441.3:c.*222A>G MANE Select | NP_001432.2:n.*222A>G |