Linked Data
gnomAD v4:
2-46385543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46385543C>A , CM000664.2:g.46385543C>A | GRCh38 |
| NC_000002.11:g.46612682C>A , CM000664.1:g.46612682C>A | GRCh37 |
| NC_000002.10:g.46466186C>A | NCBI36 |
| NG_016000.1:g.93142C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.*883C>A MANE Select | ENSP00000263734.3:n.*883C>A | |
| ENST00000263734.4:c.*883C>A | ENSP00000263734.3:n.*883C>A | |
| ENST00000466465.5:n.2469C>A | ||
| NM_001430.4:c.*883C>A | NP_001421.2:n.*883C>A | |
| XM_011532698.1:c.*883C>A | XP_011531000.1:n.*883C>A | |
| XM_011532698.2:c.*883C>A | XP_011531000.1:n.*883C>A | |
| NM_001430.5:c.*883C>A MANE Select | NP_001421.2:n.*883C>A |