HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400324C>A , CM000670.2:g.18400324C>A | GRCh38 |
NC_000008.10:g.18257834C>A , CM000670.1:g.18257834C>A | GRCh37 |
NC_000008.9:g.18302114C>A | NCBI36 |
NG_012246.1:g.14080C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.321C>A MANE Select | ENSP00000286479.3:p.His107Gln | |
ENST00000286479.3:c.321C>A | ENSP00000286479.3:p.His107Gln | |
ENST00000520116.1:c.-57-13C>A | ENSP00000428416.1:n.-57-13C>A | |
NM_000015.2:c.321C>A | NP_000006.2:p.His107Gln | |
XM_011544358.1:c.321C>A | XP_011542660.1:p.His107Gln | |
XM_017012938.1:c.321C>A | XP_016868427.1:p.His107Gln | |
NM_000015.3:c.321C>A MANE Select | NP_000006.2:p.His107Gln |