HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4817014A>T , CM000681.2:g.4817014A>T | GRCh38 |
NC_000019.9:g.4817026A>T , CM000681.1:g.4817026A>T | GRCh37 |
NC_000019.8:g.4768026A>T | NCBI36 |
NG_031998.1:g.19729T>A , LRG_358:g.19729T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1364T>A MANE Select | ENSP00000248244.4:p.Leu455His | |
ENST00000248244.5:c.1364T>A | ENSP00000248244.4:p.Leu455His | |
ENST00000621756.1:c.947T>A | ENSP00000479467.1:p.Leu316His | |
NM_182919.3:c.1364T>A , LRG_358t1:c.1364T>A | NP_891549.1:p.Leu455His | |
NM_001385678.1:c.1322T>A | NP_001372607.1:p.Leu441His | |
NM_001385679.1:c.1229T>A | NP_001372608.1:p.Leu410His | |
NM_001385680.1:c.722T>A | NP_001372609.1:p.Leu241His | |
NM_182919.4:c.1364T>A MANE Select | NP_891549.1:p.Leu455His |