HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21854378G>A , CM000669.2:g.21854378G>A | GRCh38 |
NC_000007.13:g.21893996G>A , CM000669.1:g.21893996G>A | GRCh37 |
NC_000007.12:g.21860521G>A | NCBI36 |
NG_012886.2:g.316164G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.11125G>A MANE Select | ENSP00000475939.1:p.Ala3709Thr | |
ENST00000328843.10:c.11146G>A | ENSP00000330671.7:p.Ala3716Thr | |
ENST00000409508.7:c.11125G>A | ENSP00000475939.1:p.Ala3709Thr | |
ENST00000421290.1:n.308G>A | ||
ENST00000607413.5:n.388G>A | ||
ENST00000620169.4:c.11146G>A | ENSP00000481693.1:p.Ala3716Thr | |
NM_001277115.1:c.11125G>A | NP_001264044.1:p.Ala3709Thr | |
NM_001277115.2:c.11125G>A MANE Select | NP_001264044.1:p.Ala3709Thr |