HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6019534A>T , CM000674.2:g.6019534A>T | GRCh38 |
NC_000012.11:g.6128700A>T , CM000674.1:g.6128700A>T | GRCh37 |
NC_000012.10:g.5998961A>T | NCBI36 |
NG_009072.1:g.110137T>A | |
NG_009072.2:g.110137T>A |
HGVS | Amino-acid Change |
---|---|
NM_000552.5:c.3884T>A MANE Select | NP_000543.3:p.Val1295Glu |
ENST00000261405.10:c.3884T>A MANE Select | ENSP00000261405.5:p.Val1295Glu |
NM_000552.3:c.3884T>A | NP_000543.2:p.Val1295Glu |
NM_000552.4:c.3884T>A | NP_000543.2:p.Val1295Glu |
ENST00000261405.9:c.3884T>A | ENSP00000261405.5:p.Val1295Glu |
ENST00000538635.5:n.421-25600T>A | |
ENST00000539641.1:n.682T>A |