HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49594946G>T , CM000680.2:g.49594946G>T | GRCh38 |
NC_000018.9:g.47121316G>T , CM000680.1:g.47121316G>T | GRCh37 |
NC_000018.8:g.45375314G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261292.9:c.*4424G>T MANE Select | ENSP00000261292.4:n.*4424G>T | |
ENST00000261292.8:c.*4424G>T | ENSP00000261292.4:n.*4424G>T | |
NM_006033.4:c.*4424G>T MANE Select | NP_006024.1:n.*4424G>T | |
NM_001308006.2:c.*4424G>T | NP_001294935.1:n.*4424G>T |