HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6031356G= , CM000674.2:g.6031356G= | GRCh38 |
NC_000012.11:g.6140522G= , CM000674.1:g.6140522G= | GRCh37 |
NC_000012.10:g.6010783G= | NCBI36 |
NG_009072.1:g.98315C= | |
NG_009072.2:g.98315C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.2820+88C= MANE Select | ENSP00000261405.5:n.2820+88C= | |
ENST00000261405.9:c.2820+88C= | ENSP00000261405.5:n.2820+88C= | |
ENST00000538635.5:n.421-37422C= | ||
NM_000552.3:c.2820+88C= | NP_000543.2:n.2820+88C= | |
NM_000552.4:c.2820+88C= | NP_000543.2:n.2820+88C= | |
NM_000552.5:c.2820+88C= MANE Select | NP_000543.3:n.2820+88C= |