Linked Data
gnomAD v4:
1-100539715-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539715C>A , CM000663.2:g.100539715C>A | GRCh38 |
| NC_000001.10:g.101005271C>A , CM000663.1:g.101005271C>A | GRCh37 |
| NC_000001.9:g.100777859C>A | NCBI36 |
| NG_053134.1:g.6544C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.749C>A MANE Select | ENSP00000314223.4:p.Ala250Asp | |
| ENST00000315033.4:c.749C>A | ENSP00000314223.4:p.Ala250Asp | |
| NM_022049.2:c.749C>A | NP_071332.2:p.Ala250Asp | |
| NM_022049.3:c.749C>A MANE Select | NP_071332.2:p.Ala250Asp |