HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176752G>T , CM000682.2:g.35176752G>T | GRCh38 |
NC_000020.10:g.33764555G>T , CM000682.1:g.33764555G>T | GRCh37 |
NC_000020.9:g.33228216G>T | NCBI36 |
NG_032899.1:g.9782G>T | |
NG_032899.2:g.9782G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216968.5:c.656G>T MANE Select | ENSP00000216968.3:p.Ser219Ile | |
ENST00000216968.4:c.656G>T | ENSP00000216968.3:p.Ser219Ile | |
ENST00000634509.1:c.94+306G>T | ENSP00000489456.1:n.94+306G>T | |
ENST00000635377.1:c.501+306G>T | ||
NM_006404.4:c.656G>T | NP_006395.2:p.Ser219Ile | |
XM_011528496.1:c.601+306G>T | XP_011526798.1:n.601+306G>T | |
NM_001355008.1:c.-101-10881C>A | NP_001341937.1:n.-101-10881C>A | |
NM_006404.5:c.656G>T MANE Select | NP_006395.2:p.Ser219Ile | |
NM_001355008.2:c.-101-10881C>A | NP_001341937.1:n.-101-10881C>A |