HGVS | Genome Assembly |
---|---|
NC_000004.12:g.70642598A>G , CM000666.2:g.70642598A>G | GRCh38 |
NC_000004.11:g.71508315A>G , CM000666.1:g.71508315A>G | GRCh37 |
NC_000004.10:g.71727179A>G | NCBI36 |
NG_013024.1:g.18855A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000396073.4:c.1172A>G MANE Select | ENSP00000379383.4:p.Tyr391Cys | |
ENST00000396073.3:c.1172A>G | ENSP00000379383.3:p.Tyr391Cys | |
ENST00000472903.5:n.99+4755A>G | ||
NM_031889.2:c.1172A>G | NP_114095.2:p.Tyr391Cys | |
XM_006714056.2:c.1172A>G | XP_006714119.1:p.Tyr391Cys | |
XM_006714056.4:c.1172A>G | XP_006714119.1:p.Tyr391Cys | |
NM_001368133.1:c.518A>G | NP_001355062.1:p.Tyr173Cys | |
NM_031889.3:c.1172A>G MANE Select | NP_114095.2:p.Tyr391Cys |