HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176759C>A , CM000682.2:g.35176759C>A | GRCh38 |
NC_000020.10:g.33764562C>A , CM000682.1:g.33764562C>A | GRCh37 |
NC_000020.9:g.33228223C>A | NCBI36 |
NG_032899.1:g.9789C>A | |
NG_032899.2:g.9789C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216968.5:c.663C>A MANE Select | ENSP00000216968.3:p.Ile221= | |
ENST00000216968.4:c.663C>A | ENSP00000216968.3:p.Ile221= | |
ENST00000634509.1:c.94+313C>A | ENSP00000489456.1:n.94+313C>A | |
ENST00000635377.1:c.501+313C>A | ||
NM_006404.4:c.663C>A | NP_006395.2:p.Ile221= | |
XM_011528496.1:c.601+313C>A | XP_011526798.1:n.601+313C>A | |
NM_001355008.1:c.-101-10888G>T | NP_001341937.1:n.-101-10888G>T | |
NM_006404.5:c.663C>A MANE Select | NP_006395.2:p.Ile221= | |
NM_001355008.2:c.-101-10888G>T | NP_001341937.1:n.-101-10888G>T |