Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801802G>T , CM000664.2:g.241801802G>T | GRCh38 |
| NC_000002.11:g.242741217G>T , CM000664.1:g.242741217G>T | GRCh37 |
| NC_000002.10:g.242389890G>T | NCBI36 |
| NG_046977.1:g.29978G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192314.7:c.141G>T MANE Select | ENSP00000192314.6:p.Glu47Asp | |
| ENST00000192314.6:c.141G>T | ENSP00000192314.6:p.Glu47Asp | |
| NM_022134.2:c.141G>T | NP_071417.2:p.Glu47Asp | |
| NM_022134.3:c.141G>T MANE Select | NP_071417.2:p.Glu47Asp |