Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446747C>T , CM000666.2:g.39446747C>T | GRCh38 |
| NC_000004.11:g.39448367C>T , CM000666.1:g.39448367C>T | GRCh37 |
| NC_000004.10:g.39124762C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2021C>T MANE Select | ENSP00000257408.4:p.Ala674Val | |
| ENST00000257408.4:c.2021C>T | ENSP00000257408.4:p.Ala674Val | |
| NM_175737.3:c.2021C>T | NP_783864.1:p.Ala674Val | |
| XM_005262644.1:c.1994C>T | XP_005262701.1:p.Ala665Val | |
| NM_175737.4:c.2021C>T MANE Select | NP_783864.1:p.Ala674Val |