HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43768035C>T , CM000679.2:g.43768035C>T | GRCh38 |
NC_000017.10:g.41845403C>T , CM000679.1:g.41845403C>T | GRCh37 |
NC_000017.9:g.39200929C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226004.8:c.*1574G>A MANE Select | ENSP00000226004.2:n.*1574G>A | |
ENST00000226004.7:c.*1574G>A | ENSP00000226004.2:n.*1574G>A | |
ENST00000590753.1:c.366-1251G>A | ||
ENST00000590935.1:c.2143G>A | ||
NM_004090.3:c.*1574G>A | NP_004081.1:n.*1574G>A | |
NM_004090.4:c.*1574G>A MANE Select | NP_004081.1:n.*1574G>A |