Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446742C>G , CM000666.2:g.39446742C>G | GRCh38 |
| NC_000004.11:g.39448362C>G , CM000666.1:g.39448362C>G | GRCh37 |
| NC_000004.10:g.39124757C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2016C>G MANE Select | ENSP00000257408.4:p.Ala672= | |
| ENST00000257408.4:c.2016C>G | ENSP00000257408.4:p.Ala672= | |
| NM_175737.3:c.2016C>G | NP_783864.1:p.Ala672= | |
| XM_005262644.1:c.1989C>G | XP_005262701.1:p.Ala663= | |
| NM_175737.4:c.2016C>G MANE Select | NP_783864.1:p.Ala672= |