HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33521794C>A , CM000681.2:g.33521794C>A | GRCh38 |
NC_000019.9:g.34012700C>A , CM000681.1:g.34012700C>A | GRCh37 |
NC_000019.8:g.38704540C>A | NCBI36 |
NG_013358.1:g.5100G>T | |
NG_013358.2:g.5100G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698360.1:c.-34G>T | ENSP00000513683.1:n.-34G>T | |
ENST00000698361.1:c.-34G>T | ENSP00000513684.1:n.-34G>T | |
ENST00000698362.1:c.-34G>T | ENSP00000513685.1:n.-34G>T | |
ENST00000698363.1:n.30G>T | ||
ENST00000698364.1:n.30G>T | ||
ENST00000698365.1:n.30G>T | ||
ENST00000698436.1:c.-34G>T | ENSP00000513720.1:n.-34G>T | |
ENST00000244137.11:c.-34G>T | ENSP00000244137.5:n.-34G>T | |
NM_000285.3:c.-34G>T | NP_000276.2:n.-34G>T | |
NM_001166056.1:c.-34G>T | NP_001159528.1:n.-34G>T | |
NM_001166057.1:c.-34G>T | NP_001159529.1:n.-34G>T |