HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20454896G>T , CM000676.2:g.20454896G>T | GRCh38 |
NC_000014.8:g.20923055G>T , CM000676.1:g.20923055G>T | GRCh37 |
NC_000014.7:g.19992895G>T | NCBI36 |
NG_008718.1:g.4766G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206542.8:c.-213C>A | ENSP00000206542.4:n.-213C>A | |
ENST00000556252.1:n.158C>A | ||
ENST00000556439.1:n.194C>A | ||
NM_017807.3:c.-213C>A | NP_060277.1:n.-213C>A | |
XM_011536930.1:c.-274C>A | XP_011535232.1:n.-274C>A |