HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232540026C= , CM000664.2:g.232540026C= | GRCh38 |
NC_000002.11:g.233404736C= , CM000664.1:g.233404736C= | GRCh37 |
NC_000002.10:g.233112980C= | NCBI36 |
NG_012954.1:g.5300C= | |
NG_012954.2:g.5335C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.90C= MANE Select | ENSP00000498757.1:p.Leu30= | |
ENST00000389492.3:c.90C= | ENSP00000374143.3:p.Leu30= | |
ENST00000389494.7:c.90C= | ENSP00000374145.3:p.Leu30= | |
ENST00000485094.1:n.111C= | ||
NM_005199.4:c.90C= | NP_005190.4:p.Leu30= | |
NM_005199.5:c.90C= MANE Select | NP_005190.4:p.Leu30= |