HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541509G= , CM000664.2:g.232541509G= | GRCh38 |
NC_000002.11:g.233406219G= , CM000664.1:g.233406219G= | GRCh37 |
NC_000002.10:g.233114463G= | NCBI36 |
NG_012954.1:g.6783G= | |
NG_012954.2:g.6818G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.486G= MANE Select | ENSP00000498757.1:p.Gln162= | |
ENST00000389492.3:c.350+798G= | ENSP00000374143.3:n.350+798G= | |
ENST00000389494.7:c.486G= | ENSP00000374145.3:p.Gln162= | |
ENST00000485094.1:n.507G= | ||
NM_005199.4:c.486G= | NP_005190.4:p.Gln162= | |
NM_005199.5:c.486G= MANE Select | NP_005190.4:p.Gln162= |