HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28342172C>T , CM000675.2:g.28342172C>T | GRCh38 |
NC_000013.10:g.28916309C>T , CM000675.1:g.28916309C>T | GRCh37 |
NC_000013.9:g.27814309C>T | NCBI36 |
NG_012003.1:g.157957G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706527.1:n.181-2872G>A | ||
ENST00000282397.9:c.2356-2872G>A MANE Select | ENSP00000282397.4:n.2356-2872G>A | |
ENST00000282397.8:c.2356-2872G>A | ENSP00000282397.4:n.2356-2872G>A | |
ENST00000540678.2:c.-1404-2872G>A | ENSP00000443311.2:n.-1404-2872G>A | |
NM_002019.4:c.2356-2872G>A MANE Select | NP_002010.2:n.2356-2872G>A | |
XM_017020485.1:c.2356-2872G>A | XP_016875974.1:n.2356-2872G>A |