Linked Data
gnomAD v4:
12-48981749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981749A>G , CM000674.2:g.48981749A>G | GRCh38 |
| NC_000012.11:g.49375532A>G , CM000674.1:g.49375532A>G | GRCh37 |
| NC_000012.10:g.47661799A>G | NCBI36 |
| NG_033141.1:g.8297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*109A>G MANE Select | ENSP00000293549.3:n.*109A>G | |
| NM_005430.3:c.*109A>G | NP_005421.1:n.*109A>G | |
| NM_005430.4:c.*109A>G MANE Select | NP_005421.1:n.*109A>G |