HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429313C>T , CM000667.2:g.96429313C>T | GRCh38 |
NC_000005.9:g.95765017C>T , CM000667.1:g.95765017C>T | GRCh37 |
NC_000005.8:g.95790773C>T | NCBI36 |
NG_021161.1:g.8969G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.185G>A MANE Select | ENSP00000308024.2:p.Gly62Asp | |
ENST00000311106.7:c.185G>A | ENSP00000308024.2:p.Gly62Asp | |
ENST00000508626.5:c.44G>A | ENSP00000421600.1:p.Gly15Asp | |
ENST00000509190.1:c.185G>A | ENSP00000427294.1:p.Gly62Asp | |
NM_000439.4:c.185G>A | NP_000430.3:p.Gly62Asp | |
NM_001177875.1:c.44G>A | NP_001171346.1:p.Gly15Asp | |
NR_130776.1:n.354+49661C>T | ||
NM_000439.5:c.185G>A MANE Select | NP_000430.3:p.Gly62Asp | |
NM_001177875.2:c.44G>A | NP_001171346.1:p.Gly15Asp |