HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737282C>A , CM000678.2:g.30737282C>A | GRCh38 |
NC_000016.9:g.30748603C>A , CM000678.1:g.30748603C>A | GRCh37 |
NC_000016.8:g.30656104C>A | NCBI36 |
NG_032135.1:g.43142C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7242C>A | ENSP00000405186.3:p.Val2414= | |
ENST00000704023.1:c.1522C>A | ||
ENST00000706321.1:c.7242C>A | ENSP00000516346.1:p.Val2414= | |
ENST00000262518.9:c.7242C>A MANE Select | ENSP00000262518.4:p.Val2414= | |
ENST00000262518.8:c.7242C>A | ENSP00000262518.4:p.Val2414= | |
ENST00000380361.7:c.6711C>A | ENSP00000369719.3:p.Val2237= | |
ENST00000395059.6:c.6465C>A | ENSP00000378499.3:p.Val2155= | |
NM_006662.2:c.7242C>A | NP_006653.2:p.Val2414= | |
NM_006662.3:c.7242C>A MANE Select | NP_006653.2:p.Val2414= |