Linked Data
dbSNP Id:
rs760216669
ExAC:
4:69512825 A / T
gnomAD v2:
4-69512825-A-T
gnomAD v4:
4-68647107-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647107A>T , CM000666.2:g.68647107A>T | GRCh38 |
| NC_000004.11:g.69512825A>T , CM000666.1:g.69512825A>T | GRCh37 |
| NC_000004.10:g.69195420A>T | NCBI36 |
| NG_052676.1:g.28670T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1590T>A MANE Select | ENSP00000341045.5:p.Asp530Glu | |
| ENST00000338206.5:c.1590T>A | ENSP00000341045.5:p.Asp530Glu | |
| ENST00000616841.4:c.1590T>A | ENSP00000482004.1:p.Asp530Glu | |
| NM_001076.3:c.1590T>A | NP_001067.2:p.Asp530Glu | |
| NM_001076.4:c.1590T>A MANE Select | NP_001067.2:p.Asp530Glu |