Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993205G>T , CM000670.2:g.16993205G>T | GRCh38 |
| NC_000008.10:g.16850714G>T , CM000670.1:g.16850714G>T | GRCh37 |
| NC_000008.9:g.16895085G>T | NCBI36 |
| NG_015978.1:g.13961C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.503C>A MANE Select | ENSP00000180166.5:p.Ala168Glu | |
| ENST00000180166.5:c.503C>A | ENSP00000180166.5:p.Ala168Glu | |
| ENST00000519941.1:c.207C>A | ||
| NM_019851.2:c.503C>A | NP_062825.1:p.Ala168Glu | |
| NM_019851.3:c.503C>A MANE Select | NP_062825.1:p.Ala168Glu |