Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123710C= , CM000666.2:g.46123710C= | GRCh38 |
| NC_000004.11:g.46125727C= , CM000666.1:g.46125727C= | GRCh37 |
| NC_000004.10:g.45820484C= | NCBI36 |
| NG_046964.1:g.5356G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+100G= MANE Select | ENSP00000295452.4:n.104+100G= | |
| ENST00000295452.4:c.104+100G= | ENSP00000295452.4:n.104+100G= | |
| NM_173536.3:c.104+100G= | NP_775807.2:n.104+100G= | |
| NM_173536.4:c.104+100G= MANE Select | NP_775807.2:n.104+100G= |