HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176770T= , CM000682.2:g.35176770T= | GRCh38 |
NC_000020.10:g.33764573T= , CM000682.1:g.33764573T= | GRCh37 |
NC_000020.9:g.33228234T= | NCBI36 |
NG_032899.1:g.9800T= | |
NG_032899.2:g.9800T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216968.5:c.674T= MANE Select | ENSP00000216968.3:p.Val225= | |
ENST00000216968.4:c.674T= | ENSP00000216968.3:p.Val225= | |
ENST00000634509.1:c.94+324T= | ENSP00000489456.1:n.94+324T= | |
ENST00000635377.1:c.502-317T= | ||
NM_006404.4:c.674T= | NP_006395.2:p.Val225= | |
XM_011528496.1:c.601+324T= | XP_011526798.1:n.601+324T= | |
NM_001355008.1:c.-101-10899A= | NP_001341937.1:n.-101-10899A= | |
NM_006404.5:c.674T= MANE Select | NP_006395.2:p.Val225= | |
NM_001355008.2:c.-101-10899A= | NP_001341937.1:n.-101-10899A= |