HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94425659A>G , CM000669.2:g.94425659A>G | GRCh38 |
NC_000007.13:g.94054971A>G , CM000669.1:g.94054971A>G | GRCh37 |
NC_000007.12:g.93892907A>G | NCBI36 |
NG_007405.1:g.36099A>G , LRG_2:g.36099A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2831A>G MANE Select | ENSP00000297268.6:p.His944Arg | |
ENST00000297268.10:c.2831A>G | ENSP00000297268.6:p.His944Arg | |
ENST00000469732.1:n.614A>G | ||
ENST00000478215.1:n.390A>G | ||
ENST00000481570.5:n.2804A>G | ||
ENST00000620463.1:c.2825A>G | ENSP00000477719.1:p.His942Arg | |
NM_000089.3:c.2831A>G , LRG_2t1:c.2831A>G | NP_000080.2:p.His944Arg | |
NM_000089.4:c.2831A>G MANE Select | NP_000080.2:p.His944Arg |