Linked Data
gnomAD v4:
15-73323108-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323108C>A , CM000677.2:g.73323108C>A | GRCh38 |
| NC_000015.9:g.73615449C>A , CM000677.1:g.73615449C>A | GRCh37 |
| NC_000015.8:g.71402502C>A | NCBI36 |
| NG_009063.1:g.51157G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2985G>T MANE Select | ENSP00000261917.3:p.Glu995Asp | |
| ENST00000261917.3:c.2985G>T | ENSP00000261917.3:p.Glu995Asp | |
| NM_005477.2:c.2985G>T | NP_005468.1:p.Glu995Asp | |
| XM_011521148.1:c.1767G>T | XP_011519450.1:p.Glu589Asp | |
| XM_011521148.2:c.1767G>T | XP_011519450.1:p.Glu589Asp | |
| NM_005477.3:c.2985G>T MANE Select | NP_005468.1:p.Glu995Asp |