Linked Data
gnomAD v4:
11-72243802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243802G>T , CM000673.2:g.72243802G>T | GRCh38 |
| NC_000011.9:g.71954846G>T , CM000673.1:g.71954846G>T | GRCh37 |
| NC_000011.8:g.71632494G>T | NCBI36 |
| NG_008169.1:g.5375C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.203C>A MANE Select | ENSP00000298231.5:p.Ala68Glu | |
| ENST00000544057.1:n.85+1778C>A | ||
| NM_005169.3:c.203C>A | NP_005160.2:p.Ala68Glu | |
| NM_005169.4:c.203C>A MANE Select | NP_005160.2:p.Ala68Glu |