HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67753839A>T , CM000666.2:g.67753839A>T | GRCh38 |
NC_000004.11:g.68619557A>T , CM000666.1:g.68619557A>T | GRCh37 |
NC_000004.10:g.68302152A>T | NCBI36 |
NG_009293.1:g.7248T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000226413.5:c.497T>A MANE Select | ENSP00000226413.5:p.Leu166His | |
ENST00000226413.4:c.497T>A | ENSP00000226413.4:p.Leu166His | |
ENST00000420975.2:c.497T>A | ENSP00000397561.2:p.Leu166His | |
NM_000406.2:c.497T>A | NP_000397.1:p.Leu166His | |
NM_001012763.1:c.497T>A | NP_001012781.1:p.Leu166His | |
NM_000406.3:c.497T>A MANE Select | NP_000397.1:p.Leu166His | |
NM_001012763.2:c.497T>A | NP_001012781.1:p.Leu166His |