HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977933C>A , CM000667.2:g.149977933C>A | GRCh38 |
NC_000005.9:g.149357496C>A , CM000667.1:g.149357496C>A | GRCh37 |
NC_000005.8:g.149337689C>A | NCBI36 |
NG_007147.2:g.19051C>A , LRG_684:g.19051C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.513C>A | ||
ENST00000286298.5:c.281C>A MANE Select | ENSP00000286298.4:p.Pro94His | |
ENST00000286298.4:c.281C>A | ENSP00000286298.4:p.Pro94His | |
NM_000112.3:c.281C>A , LRG_684t1:c.281C>A | NP_000103.2:p.Pro94His | |
XM_017009191.2:c.281C>A | XP_016864680.1:p.Pro94His | |
NM_000112.4:c.281C>A MANE Select | NP_000103.2:p.Pro94His |