Linked Data
gnomAD v4:
1-192811824-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811824A>G , CM000663.2:g.192811824A>G | GRCh38 |
| NC_000001.10:g.192780954A>G , CM000663.1:g.192780954A>G | GRCh37 |
| NC_000001.9:g.191047577A>G | NCBI36 |
| NG_012800.1:g.7786A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*228A>G MANE Select | ENSP00000235382.5:n.*228A>G | |
| ENST00000235382.6:c.*228A>G | ENSP00000235382.5:n.*228A>G | |
| NM_002923.3:c.*228A>G | NP_002914.1:n.*228A>G | |
| NM_002923.4:c.*228A>G MANE Select | NP_002914.1:n.*228A>G |