HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737281T>A , CM000678.2:g.30737281T>A | GRCh38 |
NC_000016.9:g.30748602T>A , CM000678.1:g.30748602T>A | GRCh37 |
NC_000016.8:g.30656103T>A | NCBI36 |
NG_032135.1:g.43141T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7241T>A | ENSP00000405186.3:p.Val2414Asp | |
ENST00000704023.1:c.1521T>A | ||
ENST00000706321.1:c.7241T>A | ENSP00000516346.1:p.Val2414Asp | |
ENST00000262518.9:c.7241T>A MANE Select | ENSP00000262518.4:p.Val2414Asp | |
ENST00000262518.8:c.7241T>A | ENSP00000262518.4:p.Val2414Asp | |
ENST00000380361.7:c.6710T>A | ENSP00000369719.3:p.Val2237Asp | |
ENST00000395059.6:c.6464T>A | ENSP00000378499.3:p.Val2155Asp | |
NM_006662.2:c.7241T>A | NP_006653.2:p.Val2414Asp | |
NM_006662.3:c.7241T>A MANE Select | NP_006653.2:p.Val2414Asp |