HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176777A>G , CM000682.2:g.35176777A>G | GRCh38 |
NC_000020.10:g.33764580A>G , CM000682.1:g.33764580A>G | GRCh37 |
NC_000020.9:g.33228241A>G | NCBI36 |
NG_032899.1:g.9807A>G | |
NG_032899.2:g.9807A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216968.5:c.681A>G MANE Select | ENSP00000216968.3:p.Val227= | |
ENST00000216968.4:c.681A>G | ENSP00000216968.3:p.Val227= | |
ENST00000634509.1:c.94+331A>G | ENSP00000489456.1:n.94+331A>G | |
ENST00000635377.1:c.502-310A>G | ||
NM_006404.4:c.681A>G | NP_006395.2:p.Val227= | |
XM_011528496.1:c.601+331A>G | XP_011526798.1:n.601+331A>G | |
NM_001355008.1:c.-101-10906T>C | NP_001341937.1:n.-101-10906T>C | |
NM_006404.5:c.681A>G MANE Select | NP_006395.2:p.Val227= | |
NM_001355008.2:c.-101-10906T>C | NP_001341937.1:n.-101-10906T>C |