HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67754019T>A , CM000666.2:g.67754019T>A | GRCh38 |
NC_000004.11:g.68619737T>A , CM000666.1:g.68619737T>A | GRCh37 |
NC_000004.10:g.68302332T>A | NCBI36 |
NG_009293.1:g.7068A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000226413.5:c.317A>T MANE Select | ENSP00000226413.5:p.Gln106Leu | |
ENST00000226413.4:c.317A>T | ENSP00000226413.4:p.Gln106Leu | |
ENST00000420975.2:c.317A>T | ENSP00000397561.2:p.Gln106Leu | |
NM_000406.2:c.317A>T | NP_000397.1:p.Gln106Leu | |
NM_001012763.1:c.317A>T | NP_001012781.1:p.Gln106Leu | |
NM_000406.3:c.317A>T MANE Select | NP_000397.1:p.Gln106Leu | |
NM_001012763.2:c.317A>T | NP_001012781.1:p.Gln106Leu |