Linked Data
gnomAD v4:
4-39447012-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39447012G>T , CM000666.2:g.39447012G>T | GRCh38 |
| NC_000004.11:g.39448632G>T , CM000666.1:g.39448632G>T | GRCh37 |
| NC_000004.10:g.39125027G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2286G>T MANE Select | ENSP00000257408.4:p.Glu762Asp | |
| ENST00000257408.4:c.2286G>T | ENSP00000257408.4:p.Glu762Asp | |
| NM_175737.3:c.2286G>T | NP_783864.1:p.Glu762Asp | |
| XM_005262644.1:c.2259G>T | XP_005262701.1:p.Glu753Asp | |
| NM_175737.4:c.2286G>T MANE Select | NP_783864.1:p.Glu762Asp |