Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46346057T= , CM000682.2:g.46346057T= | GRCh38 |
| NC_000020.10:g.44974696T= , CM000682.1:g.44974696T= | GRCh37 |
| NC_000020.9:g.44408103T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015945.12:c.*4337A= MANE Select | NP_057029.8:n.*4337A= |
| ENST00000372230.10:c.*4337A= MANE Select | ENSP00000361304.5:n.*4337A= |
| NM_001281457.2:c.*4337A= | NP_001268386.1:n.*4337A= |
| NM_001281458.2:c.*4337A= | NP_001268387.1:n.*4337A= |
| NM_001281459.2:c.*4337A= | NP_001268388.1:n.*4337A= |
| NM_001281460.2:c.*4337A= | NP_001268389.1:n.*4337A= |
| NM_173073.4:c.*4337A= | NP_775096.1:n.*4337A= |
| NM_173179.4:c.*4337A= | NP_775271.1:n.*4337A= |
| ENST00000543605.5:c.*4337A= | ENSP00000439974.2:n.*4337A= |