HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132493A>C , CM000669.2:g.147132493A>C | GRCh38 |
NC_000007.13:g.146829585A>C , CM000669.1:g.146829585A>C | GRCh37 |
NC_000007.12:g.146460518A>C | NCBI36 |
NG_007092.2:g.1021133A>C | |
NG_007092.3:g.1021493A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1332A>C MANE Select | ENSP00000354778.3:p.Gln444His | |
ENST00000636561.1:n.1235A>C | ||
ENST00000636870.1:n.1194A>C | ||
ENST00000637150.1:n.1261A>C | ||
ENST00000637694.1:n.1235A>C | ||
ENST00000637825.1:n.815A>C | ||
ENST00000638117.1:n.1235A>C | ||
ENST00000361727.7:c.1332A>C | ENSP00000354778.3:p.Gln444His | |
NM_014141.5:c.1332A>C | NP_054860.1:p.Gln444His | |
XM_017011950.2:c.1332A>C | XP_016867439.1:p.Gln444His | |
NM_014141.6:c.1332A>C MANE Select | NP_054860.1:p.Gln444His |