HGVS | Genome Assembly |
---|---|
NC_000015.10:g.90452724C>A , CM000677.2:g.90452724C>A | GRCh38 |
NC_000015.9:g.90995956C>A , CM000677.1:g.90995956C>A | GRCh37 |
NC_000015.8:g.88796960C>A | NCBI36 |
NG_052946.1:g.69484C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268182.10:c.1163-51C>A MANE Select | ENSP00000268182.5:n.1163-51C>A | |
ENST00000268182.9:c.1163-51C>A | ENSP00000268182.5:n.1163-51C>A | |
ENST00000560738.1:c.107-13323C>A | ENSP00000453181.1:n.107-13323C>A | |
ENST00000633485.1:c.1163-51C>A | ENSP00000488618.1:n.1163-51C>A | |
NM_003870.3:c.1163-51C>A | NP_003861.1:n.1163-51C>A | |
XM_005254984.2:c.1163-51C>A | XP_005255041.1:n.1163-51C>A | |
XR_001751409.2:n.1244-51C>A | ||
NM_003870.4:c.1163-51C>A MANE Select | NP_003861.1:n.1163-51C>A |