Linked Data
gnomAD v4:
1-226870480-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226870480C>A , CM000663.2:g.226870480C>A | GRCh38 |
| NC_000001.10:g.227058181C>A , CM000663.1:g.227058181C>A | GRCh37 |
| NC_000001.9:g.225124804C>A | NCBI36 |
| NG_007381.1:g.4909C>A | |
| NG_007381.2:g.5297C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-375C>A | ENSP00000355741.2:n.-375C>A | |
| ENST00000524196.6:c.-375C>A | ENSP00000429036.2:n.-375C>A | |
| ENST00000676884.1:c.-375C>A | ENSP00000503200.1:n.-375C>A | |
| ENST00000676888.1:c.-375C>A | ENSP00000504483.1:n.-375C>A | |
| ENST00000524196.5:c.-375C>A | ENSP00000429036.1:n.-375C>A | |
| XR_949226.1:n.40G>T |