Linked Data
gnomAD v4:
4-4862928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862928G>A , CM000666.2:g.4862928G>A | GRCh38 |
| NC_000004.11:g.4864655G>A , CM000666.1:g.4864655G>A | GRCh37 |
| NC_000004.10:g.4915556G>A | NCBI36 |
| NG_008121.1:g.8264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.697G>A MANE Select | ENSP00000372170.4:p.Ala233Thr | |
| ENST00000382723.4:c.697G>A | ENSP00000372170.4:p.Ala233Thr | |
| ENST00000468421.1:n.409G>A | ||
| NM_002448.3:c.697G>A MANE Select | NP_002439.2:p.Ala233Thr |