HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132365A>C , CM000669.2:g.147132365A>C | GRCh38 |
NC_000007.13:g.146829457A>C , CM000669.1:g.146829457A>C | GRCh37 |
NC_000007.12:g.146460390A>C | NCBI36 |
NG_007092.2:g.1021005A>C | |
NG_007092.3:g.1021365A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1204A>C MANE Select | ENSP00000354778.3:p.Arg402= | |
ENST00000636561.1:n.1107A>C | ||
ENST00000636870.1:n.1066A>C | ||
ENST00000637150.1:n.1133A>C | ||
ENST00000637694.1:n.1107A>C | ||
ENST00000637825.1:n.687A>C | ||
ENST00000638117.1:n.1107A>C | ||
ENST00000361727.7:c.1204A>C | ENSP00000354778.3:p.Arg402= | |
NM_014141.5:c.1204A>C | NP_054860.1:p.Arg402= | |
XM_017011950.2:c.1204A>C | XP_016867439.1:p.Arg402= | |
NM_014141.6:c.1204A>C MANE Select | NP_054860.1:p.Arg402= |