HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6023765T= , CM000674.2:g.6023765T= | GRCh38 |
NC_000012.11:g.6132931T= , CM000674.1:g.6132931T= | GRCh37 |
NC_000012.10:g.6003192T= | NCBI36 |
NG_009072.1:g.105906A= | |
NG_009072.2:g.105906A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3245A= MANE Select | ENSP00000261405.5:p.Asp1082= | |
ENST00000261405.9:c.3245A= | ENSP00000261405.5:p.Asp1082= | |
ENST00000538635.5:n.421-29831A= | ||
NM_000552.3:c.3245A= | NP_000543.2:p.Asp1082= | |
NM_000552.4:c.3245A= | NP_000543.2:p.Asp1082= | |
NM_000552.5:c.3245A= MANE Select | NP_000543.3:p.Asp1082= |