HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039907G>T , CM000663.2:g.55039907G>T | GRCh38 |
NC_000001.10:g.55505580G>T , CM000663.1:g.55505580G>T | GRCh37 |
NC_000001.9:g.55278168G>T | NCBI36 |
NG_009061.1:g.5361G>T , LRG_275:g.5361G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.70G>T | ENSP00000501161.2:p.Gly24Cys | |
ENST00000710286.1:c.427G>T | ENSP00000518176.1:p.Gly143Cys | |
ENST00000673726.1:c.70G>T | ENSP00000501004.1:p.Gly24Cys | |
ENST00000302118.5:c.70G>T MANE Select | ENSP00000303208.5:p.Gly24Cys | |
NM_174936.3:c.70G>T , LRG_275t1:c.70G>T | NP_777596.2:p.Gly24Cys | |
NM_174936.4:c.70G>T MANE Select | NP_777596.2:p.Gly24Cys |