HGVS | Genome Assembly |
---|---|
NC_000006.12:g.12290311C>A , CM000668.2:g.12290311C>A | GRCh38 |
NC_000006.11:g.12290544C>A , CM000668.1:g.12290544C>A | GRCh37 |
NC_000006.10:g.12398530C>A | NCBI36 |
NG_016196.1:g.5016C>A |
HGVS | Amino-acid Change | |
---|---|---|
NM_001168319.1:c.-319C>A | NP_001161791.1:n.-319C>A | |
NM_001955.4:c.-319C>A | NP_001946.3:n.-319C>A | |
XM_011514330.1:c.-1-318C>A | XP_011512632.1:n.-1-318C>A | |
XM_011514331.1:c.-1-318C>A | XP_011512633.1:n.-1-318C>A | |
XM_011514332.1:c.-1-318C>A | XP_011512634.1:n.-1-318C>A | |
XM_011514330.2:c.-1-318C>A | XP_011512632.1:n.-1-318C>A | |
XM_011514331.3:c.-1-318C>A | XP_011512633.1:n.-1-318C>A | |
XM_011514332.2:c.-1-318C>A | XP_011512634.1:n.-1-318C>A | |
XM_017010331.1:c.-2+188C>A | XP_016865820.1:n.-2+188C>A |