HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8015761T>A , CM000679.2:g.8015761T>A | GRCh38 |
NC_000017.10:g.7919079T>A , CM000679.1:g.7919079T>A | GRCh37 |
NC_000017.9:g.7859804T>A | NCBI36 |
NG_009092.1:g.18092T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.2963T>A MANE Select | ENSP00000254854.4:p.Val988Glu | |
ENST00000254854.4:c.2963T>A | ENSP00000254854.4:p.Val988Glu | |
NM_000180.3:c.2963T>A | NP_000171.1:p.Val988Glu | |
XM_011523816.1:c.2963T>A | XP_011522118.1:p.Val988Glu | |
NM_000180.4:c.2963T>A MANE Select | NP_000171.1:p.Val988Glu |