HGVS | Genome Assembly |
---|---|
NC_000022.11:g.18169868C>T , CM000684.2:g.18169868C>T | GRCh38 |
NC_000022.10:g.18652635C>T , CM000684.1:g.18652635C>T | GRCh37 |
NC_000022.9:g.17032635C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000699060.1:c.652C>T | ENSP00000514107.1:p.Gln218Ter | |
ENST00000699061.1:n.398C>T | ||
ENST00000215794.8:c.652C>T MANE Select | ENSP00000215794.7:p.Gln218Ter | |
ENST00000215794.7:c.652C>T | ENSP00000215794.7:p.Gln218Ter | |
NM_017414.3:c.652C>T | NP_059110.2:p.Gln218Ter | |
XM_006724074.2:c.430C>T | XP_006724137.1:p.Gln144Ter | |
XM_006724074.3:c.430C>T | XP_006724137.1:p.Gln144Ter | |
NM_017414.4:c.652C>T MANE Select | NP_059110.2:p.Gln218Ter |