HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869197C= , CM000664.2:g.240869197C= | GRCh38 |
NC_000002.11:g.241808614C= , CM000664.1:g.241808614C= | GRCh37 |
NC_000002.10:g.241457287C= | NCBI36 |
NG_008005.1:g.5453C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.193C= MANE Select | ENSP00000302620.3:p.Gln65= | |
ENST00000307503.3:c.193C= | ENSP00000302620.3:p.Gln65= | |
ENST00000472436.1:n.213C= | ||
NM_000030.2:c.193C= | NP_000021.1:p.Gln65= | |
XR_924060.1:n.405+1036G= | ||
NM_000030.3:c.193C= MANE Select | NP_000021.1:p.Gln65= |