HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023761G= , CM000674.2:g.6023761G= | GRCh38 |
NC_000012.11:g.6132927G= , CM000674.1:g.6132927G= | GRCh37 |
NC_000012.10:g.6003188G= | NCBI36 |
NG_009072.1:g.105910C= | |
NG_009072.2:g.105910C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3249C= MANE Select | ENSP00000261405.5:p.Val1083= | |
ENST00000261405.9:c.3249C= | ENSP00000261405.5:p.Val1083= | |
ENST00000538635.5:n.421-29827C= | ||
NM_000552.3:c.3249C= | NP_000543.2:p.Val1083= | |
NM_000552.4:c.3249C= | NP_000543.2:p.Val1083= | |
NM_000552.5:c.3249C= MANE Select | NP_000543.3:p.Val1083= |