HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919869C>T , CM000678.2:g.89919869C>T | GRCh38 |
NC_000016.9:g.89986277C>T , CM000678.1:g.89986277C>T | GRCh37 |
NC_000016.8:g.88513778C>T | NCBI36 |
NG_012026.1:g.6991C>T | |
NG_027810.1:g.2861C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.611C>T MANE Select | ENSP00000451605.1:p.Ala204Val | |
ENST00000639847.1:c.611C>T | ENSP00000492011.1:p.Ala204Val | |
ENST00000555147.1:c.611C>T | ENSP00000451605.1:p.Ala204Val | |
ENST00000555427.1:c.611C>T | ENSP00000451760.1:p.Ala204Val | |
ENST00000556922.1:c.611C>T | ENSP00000451560.1:p.Ala204Val | |
NM_002386.3:c.611C>T | NP_002377.4:p.Ala204Val | |
NM_002386.4:c.611C>T MANE Select | NP_002377.4:p.Ala204Val |