HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131890505A>G , CM000668.2:g.131890505A>G | GRCh38 |
NC_000006.11:g.132211645A>G , CM000668.1:g.132211645A>G | GRCh37 |
NC_000006.10:g.132253338A>G | NCBI36 |
NG_008206.1:g.87490A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684674.1:n.1203A>G | ||
ENST00000647893.1:c.2772A>G MANE Select | ENSP00000498074.1:p.Glu924= | |
ENST00000360971.6:c.2772A>G | ENSP00000354238.2:p.Glu924= | |
ENST00000513998.5:c.*1609A>G | ENSP00000422424.1:n.*1609A>G | |
NM_006208.2:c.2772A>G | NP_006199.2:p.Glu924= | |
XM_011535896.1:c.1662A>G | XP_011534198.1:p.Glu554= | |
NM_006208.3:c.2772A>G MANE Select | NP_006199.2:p.Glu924= |