HGVS | Genome Assembly |
---|---|
NC_000001.11:g.209785940T= , CM000663.2:g.209785940T= | GRCh38 |
NC_000001.10:g.209959285T= , CM000663.1:g.209959285T= | GRCh37 |
NC_000001.9:g.208025908T= | NCBI36 |
NG_007081.2:g.25195A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696133.1:c.1401-2231A= | ENSP00000512426.1:n.1401-2231A= | |
ENST00000696134.1:c.*3311A= | ENSP00000512427.1:n.*3311A= | |
ENST00000367021.8:c.*2480A= MANE Select | ENSP00000355988.3:n.*2480A= | |
ENST00000367021.7:c.*2480A= | ENSP00000355988.3:n.*2480A= | |
ENST00000542854.5:c.*2480A= | ENSP00000440532.1:n.*2480A= | |
NM_001206696.1:c.*2480A= | NP_001193625.1:n.*2480A= | |
NM_006147.3:c.*2480A= | NP_006138.1:n.*2480A= | |
NM_006147.4:c.*2480A= MANE Select | NP_006138.1:n.*2480A= | |
NM_001206696.2:c.*2480A= | NP_001193625.1:n.*2480A= |