HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37735350G>T , CM000684.2:g.37735350G>T | GRCh38 |
NC_000022.10:g.38131357G>T , CM000684.1:g.38131357G>T | GRCh37 |
NC_000022.9:g.36461303G>T | NCBI36 |
NG_012857.1:g.43363G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.5014G>T MANE Select | ENSP00000496394.1:p.Gly1672Ter | |
ENST00000344404.10:c.*4497G>T | ENSP00000340312.6:n.*4497G>T | |
ENST00000406386.7:c.5014G>T | ENSP00000384312.3:p.Gly1672Ter | |
NM_001039141.2:c.5014G>T | NP_001034230.1:p.Gly1672Ter | |
XM_011530646.1:c.512-4991C>A | XP_011528948.1:n.512-4991C>A | |
NM_001039141.3:c.5014G>T MANE Select | NP_001034230.1:p.Gly1672Ter |