HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67754120C>T , CM000666.2:g.67754120C>T | GRCh38 |
NC_000004.11:g.68619838C>T , CM000666.1:g.68619838C>T | GRCh37 |
NC_000004.10:g.68302433C>T | NCBI36 |
NG_009293.1:g.6967G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.216G>A MANE Select | ENSP00000226413.5:p.Lys72= | |
ENST00000226413.4:c.216G>A | ENSP00000226413.4:p.Lys72= | |
ENST00000420975.2:c.216G>A | ENSP00000397561.2:p.Lys72= | |
NM_000406.2:c.216G>A | NP_000397.1:p.Lys72= | |
NM_001012763.1:c.216G>A | NP_001012781.1:p.Lys72= | |
NM_000406.3:c.216G>A MANE Select | NP_000397.1:p.Lys72= | |
NM_001012763.2:c.216G>A | NP_001012781.1:p.Lys72= |