HGVS | Genome Assembly |
---|---|
NC_000018.10:g.10540435A>C , CM000680.2:g.10540435A>C | GRCh38 |
NC_000018.9:g.10540432A>C , CM000680.1:g.10540432A>C | GRCh37 |
NC_000018.8:g.10530432A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322897.11:c.506+36A>C MANE Select | ENSP00000324628.6:n.506+36A>C | |
ENST00000322897.10:c.506+36A>C | ENSP00000324628.6:n.506+36A>C | |
ENST00000580224.5:c.*369+36A>C | ENSP00000463265.1:n.*369+36A>C | |
ENST00000580483.5:c.*247+36A>C | ENSP00000464496.1:n.*247+36A>C | |
ENST00000582978.5:n.543A>C | ||
ENST00000583367.1:n.886+36A>C | ||
NM_003826.2:c.506+36A>C | NP_003817.1:n.506+36A>C | |
XM_011525754.1:c.686+36A>C | XP_011524056.1:n.686+36A>C | |
XM_011525755.1:c.551+36A>C | XP_011524057.1:n.551+36A>C | |
XM_011525756.1:c.260+36A>C | XP_011524058.1:n.260+36A>C | |
XM_011525754.2:c.686+36A>C | XP_011524056.1:n.686+36A>C | |
XM_011525756.2:c.260+36A>C | XP_011524058.1:n.260+36A>C | |
XM_017026063.2:c.251+36A>C | XP_016881552.1:n.251+36A>C | |
NM_003826.3:c.506+36A>C MANE Select | NP_003817.1:n.506+36A>C |