HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474695G>T , CM000684.2:g.32474695G>T | GRCh38 |
NC_000022.10:g.32870682G>T , CM000684.1:g.32870682G>T | GRCh37 |
NC_000022.9:g.31200682G>T | NCBI36 |
NG_016001.1:g.4976G>T | |
NG_016001.2:g.4976G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.11:c.-308G>T | ENSP00000266087.7:n.-308G>T | |
ENST00000420700.5:c.-308G>T | ENSP00000406155.1:n.-308G>T | |
XM_011530106.1:c.-481G>T | XP_011528408.1:n.-481G>T | |
XM_024452207.1:c.-498G>T | XP_024307975.1:n.-498G>T |