Linked Data
gnomAD v4:
1-192811808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811808A>G , CM000663.2:g.192811808A>G | GRCh38 |
| NC_000001.10:g.192780938A>G , CM000663.1:g.192780938A>G | GRCh37 |
| NC_000001.9:g.191047561A>G | NCBI36 |
| NG_012800.1:g.7770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*212A>G MANE Select | ENSP00000235382.5:n.*212A>G | |
| ENST00000235382.6:c.*212A>G | ENSP00000235382.5:n.*212A>G | |
| NM_002923.3:c.*212A>G | NP_002914.1:n.*212A>G | |
| NM_002923.4:c.*212A>G MANE Select | NP_002914.1:n.*212A>G |