HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132403C>A , CM000669.2:g.147132403C>A | GRCh38 |
NC_000007.13:g.146829495C>A , CM000669.1:g.146829495C>A | GRCh37 |
NC_000007.12:g.146460428C>A | NCBI36 |
NG_007092.2:g.1021043C>A | |
NG_007092.3:g.1021403C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1242C>A MANE Select | ENSP00000354778.3:p.His414Gln | |
ENST00000636561.1:n.1145C>A | ||
ENST00000636870.1:n.1104C>A | ||
ENST00000637150.1:n.1171C>A | ||
ENST00000637694.1:n.1145C>A | ||
ENST00000637825.1:n.725C>A | ||
ENST00000638117.1:n.1145C>A | ||
ENST00000361727.7:c.1242C>A | ENSP00000354778.3:p.His414Gln | |
NM_014141.5:c.1242C>A | NP_054860.1:p.His414Gln | |
XM_017011950.2:c.1242C>A | XP_016867439.1:p.His414Gln | |
NM_014141.6:c.1242C>A MANE Select | NP_054860.1:p.His414Gln |