Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839714A>C , CM000677.2:g.84839714A>C | GRCh38 |
| NC_000015.9:g.85382945A>C , CM000677.1:g.85382945A>C | GRCh37 |
| NC_000015.8:g.83183949A>C | NCBI36 |
| NG_054748.1:g.28084A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258888.6:c.435A>C MANE Select | ENSP00000258888.6:p.Glu145Asp | |
| ENST00000258888.5:c.1041A>C | ENSP00000258888.5:p.Glu347Asp | |
| NM_020778.4:c.1041A>C | NP_065829.3:p.Glu347Asp | |
| NM_020778.5:c.435A>C MANE Select | NP_065829.4:p.Glu145Asp |