Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123694T>A , CM000666.2:g.46123694T>A | GRCh38 |
| NC_000004.11:g.46125711T>A , CM000666.1:g.46125711T>A | GRCh37 |
| NC_000004.10:g.45820468T>A | NCBI36 |
| NG_046964.1:g.5372A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+116A>T MANE Select | ENSP00000295452.4:n.104+116A>T | |
| ENST00000295452.4:c.104+116A>T | ENSP00000295452.4:n.104+116A>T | |
| NM_173536.3:c.104+116A>T | NP_775807.2:n.104+116A>T | |
| NM_173536.4:c.104+116A>T MANE Select | NP_775807.2:n.104+116A>T |