HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241667A>C , CM000667.2:g.157241667A>C | GRCh38 |
NC_000005.9:g.156668677A>C , CM000667.1:g.156668677A>C | GRCh37 |
NC_000005.8:g.156601255A>C | NCBI36 |
NG_016276.1:g.65771A>C , LRG_189:g.65771A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.873A>C | ENSP00000513001.1:p.Val291= | |
ENST00000422843.8:c.1007A>C MANE Select | ENSP00000398655.4:p.Tyr336Ser | |
ENST00000422843.7:c.1007A>C | ENSP00000398655.3:p.Tyr336Ser | |
ENST00000519402.5:n.2592A>C | ||
ENST00000519749.1:n.77A>C | ||
ENST00000520173.1:n.125A>C | ||
NM_005546.3:c.1007A>C , LRG_189t1:c.1007A>C | NP_005537.3:p.Tyr336Ser | |
XM_017009443.1:c.632A>C | XP_016864932.1:p.Tyr211Ser | |
NM_005546.4:c.1007A>C MANE Select | NP_005537.3:p.Tyr336Ser |