Linked Data
gnomAD v4:
1-192812049-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812049G>C , CM000663.2:g.192812049G>C | GRCh38 |
| NC_000001.10:g.192781179G>C , CM000663.1:g.192781179G>C | GRCh37 |
| NC_000001.9:g.191047802G>C | NCBI36 |
| NG_012800.1:g.8011G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*453G>C MANE Select | ENSP00000235382.5:n.*453G>C | |
| ENST00000235382.6:c.*453G>C | ENSP00000235382.5:n.*453G>C | |
| NM_002923.3:c.*453G>C | NP_002914.1:n.*453G>C | |
| NM_002923.4:c.*453G>C MANE Select | NP_002914.1:n.*453G>C |