HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740595C>T , CM000666.2:g.67740595C>T | GRCh38 |
NC_000004.11:g.68606313C>T , CM000666.1:g.68606313C>T | GRCh37 |
NC_000004.10:g.68288908C>T | NCBI36 |
NG_009293.1:g.20492G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.872G>A MANE Select | ENSP00000226413.5:p.Trp291Ter | |
ENST00000226413.4:c.872G>A | ENSP00000226413.4:p.Trp291Ter | |
ENST00000420975.2:c.744G>A | ENSP00000397561.2:p.Leu248= | |
NM_000406.2:c.872G>A | NP_000397.1:p.Trp291Ter | |
NM_001012763.1:c.744G>A | NP_001012781.1:p.Leu248= | |
NM_000406.3:c.872G>A MANE Select | NP_000397.1:p.Trp291Ter | |
NM_001012763.2:c.744G>A | NP_001012781.1:p.Leu248= |