HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974730G>A , CM000681.2:g.48974730G>A | GRCh38 |
NC_000019.9:g.49477987G>A , CM000681.1:g.49477987G>A | GRCh37 |
NC_000019.8:g.54169799G>A | NCBI36 |
NG_012923.1:g.23624C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1312C>T MANE Select | ENSP00000317904.3:p.Gln438Ter | |
ENST00000263276.6:c.1120C>T | ENSP00000263276.6:p.Gln374Ter | |
ENST00000323798.7:c.1312C>T | ENSP00000317904.3:p.Gln438Ter | |
ENST00000472004.5:n.67C>T | ||
ENST00000496048.1:n.219C>T | ||
NM_001161587.1:c.1120C>T | NP_001155059.1:p.Gln374Ter | |
NM_002103.4:c.1312C>T | NP_002094.2:p.Gln438Ter | |
NR_027763.1:n.1371C>T | ||
NM_002103.5:c.1312C>T MANE Select | NP_002094.2:p.Gln438Ter | |
NM_001161587.2:c.1120C>T | NP_001155059.1:p.Gln374Ter | |
NR_027763.2:n.1327C>T |