HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733307G>T , CM000684.2:g.37733307G>T | GRCh38 |
NC_000022.10:g.38129314G>T , CM000684.1:g.38129314G>T | GRCh37 |
NC_000022.9:g.36459260G>T | NCBI36 |
NG_012857.1:g.41320G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3957G>T MANE Select | ENSP00000496394.1:p.Glu1319Asp | |
ENST00000344404.10:c.*3440G>T | ENSP00000340312.6:n.*3440G>T | |
ENST00000406386.7:c.3957G>T | ENSP00000384312.3:p.Glu1319Asp | |
NM_001039141.2:c.3957G>T | NP_001034230.1:p.Glu1319Asp | |
XM_011530646.1:c.512-2948C>A | XP_011528948.1:n.512-2948C>A | |
NM_001039141.3:c.3957G>T MANE Select | NP_001034230.1:p.Glu1319Asp |