Linked Data
gnomAD v4:
12-5043951-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043951A>G , CM000674.2:g.5043951A>G | GRCh38 |
| NC_000012.11:g.5153117A>G , CM000674.1:g.5153117A>G | GRCh37 |
| NC_000012.10:g.5023378A>G | NCBI36 |
| NG_012198.1:g.5033A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.-197A>G MANE Select | ENSP00000252321.3:n.-197A>G | |
| NM_002234.3:c.-197A>G | NP_002225.2:n.-197A>G | |
| NM_002234.4:c.-197A>G MANE Select | NP_002225.2:n.-197A>G |