Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954157A>T , CM000670.2:g.19954157A>T | GRCh38 |
| NC_000008.10:g.19811668A>T , CM000670.1:g.19811668A>T | GRCh37 |
| NC_000008.9:g.19855948A>T | NCBI36 |
| NG_008855.1:g.20087A>T | |
| NG_008855.2:g.57441A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.579A>T MANE Select | ENSP00000497642.1:p.Glu193Asp | |
| ENST00000311322.8:c.579A>T | ENSP00000309757.6:p.Glu193Asp | |
| NM_000237.2:c.579A>T | NP_000228.1:p.Glu193Asp | |
| NM_000237.3:c.579A>T MANE Select | NP_000228.1:p.Glu193Asp |