HGVS | Genome Assembly |
---|---|
NC_000002.12:g.206122527G>A , CM000664.2:g.206122527G>A | GRCh38 |
NC_000002.11:g.206987251G>A , CM000664.1:g.206987251G>A | GRCh37 |
NC_000002.10:g.206695496G>A | NCBI36 |
NG_009248.1:g.41937C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233190.11:c.*1658C>T MANE Select | ENSP00000233190.5:n.*1658C>T | |
ENST00000233190.10:c.*1658C>T | ENSP00000233190.5:n.*1658C>T | |
NM_001199981.2:c.*1658C>T | NP_001186910.1:n.*1658C>T | |
NM_001199982.2:c.*1658C>T | NP_001186911.1:n.*1658C>T | |
NM_001199983.2:c.*1658C>T | NP_001186912.1:n.*1658C>T | |
NM_005006.7:c.*1658C>T MANE Select | NP_004997.4:n.*1658C>T | |
NM_001199984.2:c.*1658C>T | NP_001186913.1:n.*1658C>T |