HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018414C= , CM000674.2:g.6018414C= | GRCh38 |
NC_000012.11:g.6127580C= , CM000674.1:g.6127580C= | GRCh37 |
NC_000012.10:g.5997841C= | NCBI36 |
NG_009072.1:g.111257G= | |
NG_009072.2:g.111257G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.5004G= MANE Select | ENSP00000261405.5:p.Arg1668= | |
ENST00000261405.9:c.5004G= | ENSP00000261405.5:p.Arg1668= | |
ENST00000538635.5:n.421-24480G= | ||
NM_000552.3:c.5004G= | NP_000543.2:p.Arg1668= | |
NM_000552.4:c.5004G= | NP_000543.2:p.Arg1668= | |
NM_000552.5:c.5004G= MANE Select | NP_000543.3:p.Arg1668= |