HGVS | Genome Assembly |
---|---|
NC_000001.11:g.165419943G>T , CM000663.2:g.165419943G>T | GRCh38 |
NC_000001.10:g.165389180G>T , CM000663.1:g.165389180G>T | GRCh37 |
NC_000001.9:g.163655804G>T | NCBI36 |
NG_029517.1:g.30413C>A | |
NG_029517.2:g.30413C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359842.10:c.369C>A MANE Select | ENSP00000352900.5:p.Asn123Lys | |
ENST00000359842.9:c.369C>A | ENSP00000352900.5:p.Asn123Lys | |
ENST00000470566.1:n.294C>A | ||
ENST00000619224.1:c.-1C>A | ENSP00000482458.1:n.-1C>A | |
NM_001256570.1:c.-1C>A | NP_001243499.1:n.-1C>A | |
NM_001256571.1:c.-1C>A | NP_001243500.1:n.-1C>A | |
NM_006917.4:c.369C>A | NP_008848.1:p.Asn123Lys | |
NM_006917.5:c.369C>A MANE Select | NP_008848.1:p.Asn123Lys | |
NM_001256571.2:c.-1C>A | NP_001243500.1:n.-1C>A | |
NM_001256570.2:c.-1C>A | NP_001243499.1:n.-1C>A |