Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122098G>T , CM000668.2:g.18122098G>T | GRCh38 |
| NC_000006.11:g.18122329G>T , CM000668.1:g.18122329G>T | GRCh37 |
| NC_000006.10:g.18230308G>T | NCBI36 |
| NG_016750.1:g.5523C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.509C>A MANE Select | ENSP00000345464.3:p.Ala170Asp | |
| ENST00000340650.4:c.509C>A | ENSP00000345464.3:p.Ala170Asp | |
| NM_198586.2:c.509C>A | NP_940988.2:p.Ala170Asp | |
| NM_198586.3:c.509C>A MANE Select | NP_940988.2:p.Ala170Asp |