HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35176695C= , CM000682.2:g.35176695C= | GRCh38 |
NC_000020.10:g.33764498C= , CM000682.1:g.33764498C= | GRCh37 |
NC_000020.9:g.33228159C= | NCBI36 |
NG_032899.1:g.9725C= | |
NG_032899.2:g.9725C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216968.5:c.602-3C= MANE Select | ENSP00000216968.3:n.602-3C= | |
ENST00000216968.4:c.602-3C= | ENSP00000216968.3:n.602-3C= | |
ENST00000634509.1:c.94+249C= | ENSP00000489456.1:n.94+249C= | |
ENST00000635377.1:c.501+249C= | ||
NM_006404.4:c.602-3C= | NP_006395.2:n.602-3C= | |
XM_011528496.1:c.601+249C= | XP_011526798.1:n.601+249C= | |
NM_001355008.1:c.-101-10824G= | NP_001341937.1:n.-101-10824G= | |
NM_006404.5:c.602-3C= MANE Select | NP_006395.2:n.602-3C= | |
NM_001355008.2:c.-101-10824G= | NP_001341937.1:n.-101-10824G= |