Linked Data
gnomAD v4:
12-48981806-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981806T>C , CM000674.2:g.48981806T>C | GRCh38 |
| NC_000012.11:g.49375589T>C , CM000674.1:g.49375589T>C | GRCh37 |
| NC_000012.10:g.47661856T>C | NCBI36 |
| NG_033141.1:g.8354T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*166T>C MANE Select | ENSP00000293549.3:n.*166T>C | |
| NM_005430.3:c.*166T>C | NP_005421.1:n.*166T>C | |
| NM_005430.4:c.*166T>C MANE Select | NP_005421.1:n.*166T>C |