HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27508343G>A , CM000664.2:g.27508343G>A | GRCh38 |
NC_000002.11:g.27731210G>A , CM000664.1:g.27731210G>A | GRCh37 |
NC_000002.10:g.27584714G>A | NCBI36 |
NG_028024.1:g.16505G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264717.7:c.1422+92G>A MANE Select | ENSP00000264717.2:n.1422+92G>A | |
ENST00000264717.6:c.1422+92G>A | ENSP00000264717.2:n.1422+92G>A | |
ENST00000411584.1:c.524+92G>A | ||
NM_001486.3:c.1422+92G>A | NP_001477.2:n.1422+92G>A | |
XM_011532761.1:c.1269+92G>A | XP_011531063.1:n.1269+92G>A | |
XM_011532762.1:c.852+92G>A | XP_011531064.1:n.852+92G>A | |
XM_017003796.1:c.852+92G>A | XP_016859285.1:n.852+92G>A | |
XM_017003797.1:c.852+92G>A | XP_016859286.1:n.852+92G>A | |
NM_001486.4:c.1422+92G>A MANE Select | NP_001477.2:n.1422+92G>A |