HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75516137G>T , CM000679.2:g.75516137G>T | GRCh38 |
NC_000017.10:g.73512218G>T , CM000679.1:g.73512218G>T | GRCh37 |
NC_000017.9:g.71023813G>T | NCBI36 |
NG_013041.1:g.4610G>T | |
NG_033152.1:g.4447C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434205.8:c.-332G>T | ENSP00000406559.4:n.-332G>T | |
ENST00000679370.1:n.194G>T | ||
ENST00000434205.7:c.-332G>T | ENSP00000406559.3:n.-332G>T | |
XM_006721821.2:c.-497G>T | XP_006721884.1:n.-497G>T |