HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75003562G>A , CM000676.2:g.75003562G>A | GRCh38 |
NC_000014.8:g.75470265G>A , CM000676.1:g.75470265G>A | GRCh37 |
NC_000014.7:g.74540018G>A | NCBI36 |
NG_013333.1:g.5654G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.296G>A MANE Select | ENSP00000266126.5:p.Arg99His | |
ENST00000266126.9:c.296G>A | ENSP00000266126.5:p.Arg99His | |
ENST00000553401.5:c.269G>A | ENSP00000451681.1:p.Arg90His | |
ENST00000553539.1:n.591G>A | ||
ENST00000555522.1:n.354G>A | ||
ENST00000556028.5:c.296G>A | ENSP00000452311.1:p.Arg99His | |
NM_014239.3:c.296G>A | NP_055054.1:p.Arg99His | |
NM_014239.4:c.296G>A MANE Select | NP_055054.1:p.Arg99His |