HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132333A>C , CM000669.2:g.147132333A>C | GRCh38 |
NC_000007.13:g.146829425A>C , CM000669.1:g.146829425A>C | GRCh37 |
NC_000007.12:g.146460358A>C | NCBI36 |
NG_007092.2:g.1020973A>C | |
NG_007092.3:g.1021333A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1172A>C MANE Select | ENSP00000354778.3:p.Asn391Thr | |
ENST00000636561.1:n.1075A>C | ||
ENST00000636870.1:n.1034A>C | ||
ENST00000637150.1:n.1101A>C | ||
ENST00000637694.1:n.1075A>C | ||
ENST00000637825.1:n.655A>C | ||
ENST00000638117.1:n.1075A>C | ||
ENST00000361727.7:c.1172A>C | ENSP00000354778.3:p.Asn391Thr | |
NM_014141.5:c.1172A>C | NP_054860.1:p.Asn391Thr | |
XM_017011950.2:c.1172A>C | XP_016867439.1:p.Asn391Thr | |
NM_014141.6:c.1172A>C MANE Select | NP_054860.1:p.Asn391Thr |