HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541468G= , CM000664.2:g.232541468G= | GRCh38 |
NC_000002.11:g.233406178G= , CM000664.1:g.233406178G= | GRCh37 |
NC_000002.10:g.233114422G= | NCBI36 |
NG_012954.1:g.6742G= | |
NG_012954.2:g.6777G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.445G= MANE Select | ENSP00000498757.1:p.Ala149= | |
ENST00000389492.3:c.350+757G= | ENSP00000374143.3:n.350+757G= | |
ENST00000389494.7:c.445G= | ENSP00000374145.3:p.Ala149= | |
ENST00000485094.1:n.466G= | ||
NM_005199.4:c.445G= | NP_005190.4:p.Ala149= | |
NM_005199.5:c.445G= MANE Select | NP_005190.4:p.Ala149= |