HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541519C>A , CM000664.2:g.232541519C>A | GRCh38 |
NC_000002.11:g.233406229C>A , CM000664.1:g.233406229C>A | GRCh37 |
NC_000002.10:g.233114473C>A | NCBI36 |
NG_012954.1:g.6793C>A | |
NG_012954.2:g.6828C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.496C>A MANE Select | ENSP00000498757.1:p.Leu166Ile | |
ENST00000389492.3:c.350+808C>A | ENSP00000374143.3:n.350+808C>A | |
ENST00000389494.7:c.496C>A | ENSP00000374145.3:p.Leu166Ile | |
ENST00000485094.1:n.517C>A | ||
NM_005199.4:c.496C>A | NP_005190.4:p.Leu166Ile | |
NM_005199.5:c.496C>A MANE Select | NP_005190.4:p.Leu166Ile |