Linked Data
gnomAD v4:
12-48981809-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981809A>C , CM000674.2:g.48981809A>C | GRCh38 |
| NC_000012.11:g.49375592A>C , CM000674.1:g.49375592A>C | GRCh37 |
| NC_000012.10:g.47661859A>C | NCBI36 |
| NG_033141.1:g.8357A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*169A>C MANE Select | ENSP00000293549.3:n.*169A>C | |
| NM_005430.3:c.*169A>C | NP_005421.1:n.*169A>C | |
| NM_005430.4:c.*169A>C MANE Select | NP_005421.1:n.*169A>C |