HGVS | Genome Assembly |
---|---|
NC_000020.11:g.48763257C>T , CM000682.2:g.48763257C>T | GRCh38 |
NC_000020.10:g.47379794C>T , CM000682.1:g.47379794C>T | GRCh37 |
NC_000020.9:g.46813201C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371941.4:c.220-15377G>A MANE Select | ENSP00000361009.3:n.220-15377G>A | |
ENST00000371941.3:c.220-15377G>A | ENSP00000361009.3:n.220-15377G>A | |
NM_020820.3:c.220-15377G>A | NP_065871.2:n.220-15377G>A | |
NM_020820.4:c.220-15377G>A MANE Select | NP_065871.3:n.220-15377G>A |