HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176767G= , CM000682.2:g.35176767G= | GRCh38 |
NC_000020.10:g.33764570G= , CM000682.1:g.33764570G= | GRCh37 |
NC_000020.9:g.33228231G= | NCBI36 |
NG_032899.1:g.9797G= | |
NG_032899.2:g.9797G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216968.5:c.671G= MANE Select | ENSP00000216968.3:p.Gly224= | |
ENST00000216968.4:c.671G= | ENSP00000216968.3:p.Gly224= | |
ENST00000634509.1:c.94+321G= | ENSP00000489456.1:n.94+321G= | |
ENST00000635377.1:c.502-320G= | ||
NM_006404.4:c.671G= | NP_006395.2:p.Gly224= | |
XM_011528496.1:c.601+321G= | XP_011526798.1:n.601+321G= | |
NM_001355008.1:c.-101-10896C= | NP_001341937.1:n.-101-10896C= | |
NM_006404.5:c.671G= MANE Select | NP_006395.2:p.Gly224= | |
NM_001355008.2:c.-101-10896C= | NP_001341937.1:n.-101-10896C= |