HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337392G>T , CM000673.2:g.47337392G>T | GRCh38 |
NC_000011.9:g.47358943G>T , CM000673.1:g.47358943G>T | GRCh37 |
NC_000011.8:g.47315519G>T | NCBI36 |
NG_007667.1:g.20311C>A , LRG_386:g.20311C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2601C>A MANE Select | ENSP00000442795.1:p.Ile867= | |
ENST00000256993.8:c.2601C>A | ENSP00000256993.5:p.Ile867= | |
ENST00000399249.6:c.2601C>A | ENSP00000382193.2:p.Ile867= | |
ENST00000544791.1:c.*106C>A | ENSP00000444259.1:n.*106C>A | |
ENST00000545968.5:c.2601C>A | ENSP00000442795.1:p.Ile867= | |
NM_000256.3:c.2601C>A , LRG_386t1:c.2601C>A MANE Select | NP_000247.2:p.Ile867= | |
XM_011520117.1:c.2583C>A | XP_011518419.1:p.Ile861= | |
XM_011520118.1:c.2520C>A | XP_011518420.1:p.Ile840= |