HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20454909G>T , CM000676.2:g.20454909G>T | GRCh38 |
NC_000014.8:g.20923068G>T , CM000676.1:g.20923068G>T | GRCh37 |
NC_000014.7:g.19992908G>T | NCBI36 |
NG_008718.1:g.4779G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206542.8:c.-226C>A | ENSP00000206542.4:n.-226C>A | |
ENST00000556252.1:n.145C>A | ||
ENST00000556439.1:n.181C>A | ||
NM_017807.3:c.-226C>A | NP_060277.1:n.-226C>A | |
XM_011536930.1:c.-287C>A | XP_011535232.1:n.-287C>A |