HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737277C>G , CM000678.2:g.30737277C>G | GRCh38 |
NC_000016.9:g.30748598C>G , CM000678.1:g.30748598C>G | GRCh37 |
NC_000016.8:g.30656099C>G | NCBI36 |
NG_032135.1:g.43137C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7237C>G | ENSP00000405186.3:p.Pro2413Ala | |
ENST00000704023.1:c.1517C>G | ||
ENST00000706321.1:c.7237C>G | ENSP00000516346.1:p.Pro2413Ala | |
ENST00000262518.9:c.7237C>G MANE Select | ENSP00000262518.4:p.Pro2413Ala | |
ENST00000262518.8:c.7237C>G | ENSP00000262518.4:p.Pro2413Ala | |
ENST00000380361.7:c.6706C>G | ENSP00000369719.3:p.Pro2236Ala | |
ENST00000395059.6:c.6460C>G | ENSP00000378499.3:p.Pro2154Ala | |
NM_006662.2:c.7237C>G | NP_006653.2:p.Pro2413Ala | |
NM_006662.3:c.7237C>G MANE Select | NP_006653.2:p.Pro2413Ala |