HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132412T>C , CM000669.2:g.147132412T>C | GRCh38 |
NC_000007.13:g.146829504T>C , CM000669.1:g.146829504T>C | GRCh37 |
NC_000007.12:g.146460437T>C | NCBI36 |
NG_007092.2:g.1021052T>C | |
NG_007092.3:g.1021412T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1251T>C MANE Select | ENSP00000354778.3:p.Asp417= | |
ENST00000636561.1:n.1154T>C | ||
ENST00000636870.1:n.1113T>C | ||
ENST00000637150.1:n.1180T>C | ||
ENST00000637694.1:n.1154T>C | ||
ENST00000637825.1:n.734T>C | ||
ENST00000638117.1:n.1154T>C | ||
ENST00000361727.7:c.1251T>C | ENSP00000354778.3:p.Asp417= | |
NM_014141.5:c.1251T>C | NP_054860.1:p.Asp417= | |
XM_017011950.2:c.1251T>C | XP_016867439.1:p.Asp417= | |
NM_014141.6:c.1251T>C MANE Select | NP_054860.1:p.Asp417= |