Linked Data
gnomAD v4:
3-180659520-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659520T>A , CM000665.2:g.180659520T>A | GRCh38 |
| NC_000003.11:g.180377308T>A , CM000665.1:g.180377308T>A | GRCh37 |
| NC_000003.10:g.181860002T>A | NCBI36 |
| NG_029581.1:g.24976A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.670A>T MANE Select | ENSP00000417960.2:p.Ile224Phe | |
| ENST00000650641.1:n.749A>T | ||
| ENST00000650889.1:n.842A>T | ||
| ENST00000651046.1:c.670A>T | ENSP00000499175.1:p.Ile224Phe | |
| ENST00000651818.1:n.812A>T | ||
| ENST00000652024.1:n.761A>T | ||
| ENST00000652408.1:n.807A>T | ||
| ENST00000442201.6:c.670A>T | ENSP00000405708.2:p.Ile224Phe | |
| ENST00000476379.5:c.670A>T | ENSP00000417960.1:p.Ile224Phe | |
| NM_181426.1:c.670A>T | NP_852091.1:p.Ile224Phe | |
| NM_181426.2:c.670A>T MANE Select | NP_852091.1:p.Ile224Phe |