HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816713G= , CM000681.2:g.4816713G= | GRCh38 |
NC_000019.9:g.4816725G= , CM000681.1:g.4816725G= | GRCh37 |
NC_000019.8:g.4767725G= | NCBI36 |
NG_031998.1:g.20030C= , LRG_358:g.20030C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1665C= MANE Select | ENSP00000248244.4:p.His555= | |
ENST00000248244.5:c.1665C= | ENSP00000248244.4:p.His555= | |
ENST00000621756.1:c.1248C= | ENSP00000479467.1:p.His416= | |
NM_182919.3:c.1665C= , LRG_358t1:c.1665C= | NP_891549.1:p.His555= | |
NM_001385678.1:c.1623C= | NP_001372607.1:p.His541= | |
NM_001385679.1:c.1530C= | NP_001372608.1:p.His510= | |
NM_001385680.1:c.1023C= | NP_001372609.1:p.His341= | |
NM_182919.4:c.1665C= MANE Select | NP_891549.1:p.His555= |