HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816477T>C , CM000681.2:g.4816477T>C | GRCh38 |
NC_000019.9:g.4816489T>C , CM000681.1:g.4816489T>C | GRCh37 |
NC_000019.8:g.4767489T>C | NCBI36 |
NG_031998.1:g.20266A>G , LRG_358:g.20266A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1901A>G MANE Select | ENSP00000248244.4:p.His634Arg | |
ENST00000248244.5:c.1901A>G | ENSP00000248244.4:p.His634Arg | |
ENST00000621756.1:c.1479+5A>G | ENSP00000479467.1:n.1479+5A>G | |
NM_182919.3:c.1901A>G , LRG_358t1:c.1901A>G | NP_891549.1:p.His634Arg | |
NM_001385678.1:c.1859A>G | NP_001372607.1:p.His620Arg | |
NM_001385679.1:c.1766A>G | NP_001372608.1:p.His589Arg | |
NM_001385680.1:c.1259A>G | NP_001372609.1:p.His420Arg | |
NM_182919.4:c.1901A>G MANE Select | NP_891549.1:p.His634Arg |