HGVS | Genome Assembly |
---|---|
NC_000015.10:g.22786686G= , CM000677.2:g.22786686G= | GRCh38 |
NC_000015.9:g.23086382C= , CM000677.1:g.23086382C= | GRCh37 |
NC_000015.8:g.20637823C= | NCBI36 |
NG_009056.1:g.5462G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337435.9:c.30G= MANE Select | ENSP00000337452.4:p.Ala10= | |
ENST00000337435.8:c.30G= | ENSP00000337452.4:p.Ala10= | |
ENST00000437912.6:c.-48+12373G= | ENSP00000393962.2:n.-48+12373G= | |
ENST00000560069.5:n.31+438G= | ||
ENST00000561183.5:c.-48+438G= | ENSP00000453722.1:n.-48+438G= | |
NM_001142275.1:c.-48+438G= | NP_001135747.1:n.-48+438G= | |
NM_144599.4:c.30G= | NP_653200.2:p.Ala10= | |
NM_144599.5:c.30G= MANE Select | NP_653200.2:p.Ala10= |