HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816716T>A , CM000681.2:g.4816716T>A | GRCh38 |
NC_000019.9:g.4816728T>A , CM000681.1:g.4816728T>A | GRCh37 |
NC_000019.8:g.4767728T>A | NCBI36 |
NG_031998.1:g.20027A>T , LRG_358:g.20027A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000248244.6:c.1662A>T MANE Select | ENSP00000248244.4:p.Gln554His | |
ENST00000248244.5:c.1662A>T | ENSP00000248244.4:p.Gln554His | |
ENST00000621756.1:c.1245A>T | ENSP00000479467.1:p.Gln415His | |
NM_182919.3:c.1662A>T , LRG_358t1:c.1662A>T | NP_891549.1:p.Gln554His | |
NM_001385678.1:c.1620A>T | NP_001372607.1:p.Gln540His | |
NM_001385679.1:c.1527A>T | NP_001372608.1:p.Gln509His | |
NM_001385680.1:c.1020A>T | NP_001372609.1:p.Gln340His | |
NM_182919.4:c.1662A>T MANE Select | NP_891549.1:p.Gln554His |