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