HGVS | Genome Assembly |
---|---|
NC_000001.11:g.25815655G>A , CM000663.2:g.25815655G>A | GRCh38 |
NC_000001.10:g.26142146G>A , CM000663.1:g.26142146G>A | GRCh37 |
NC_000001.9:g.26014733G>A | NCBI36 |
NG_009930.1:g.20480G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354177.9:c.1539G>A | ENSP00000346109.5:p.Thr513= | |
ENST00000494537.2:c.1697G>A | ENSP00000508308.1:n.1697G>A | |
ENST00000361547.7:c.1710G>A MANE Select | ENSP00000355141.2:p.Thr570= | |
ENST00000354177.8:c.1608G>A | ENSP00000346109.4:p.Thr536= | |
ENST00000361547.6:c.1710G>A | ENSP00000355141.2:p.Thr570= | |
ENST00000374315.1:c.1608G>A | ENSP00000363434.1:p.Thr536= | |
ENST00000494537.1:n.477G>A | ||
ENST00000527604.1:c.123+1477G>A | ENSP00000457066.1:n.123+1477G>A | |
ENST00000559265.1:n.255+3776G>A | ||
ENST00000630065.2:c.138G>A | ENSP00000487549.1:p.Thr46= | |
NM_020451.2:c.1710G>A | NP_065184.2:p.Thr570= | |
NM_206926.1:c.1608G>A | NP_996809.1:p.Thr536= | |
NM_020451.3:c.1710G>A MANE Select | NP_065184.2:p.Thr570= | |
NM_206926.2:c.1608G>A | NP_996809.1:p.Thr536= |