HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6269879A>G , CM000666.2:g.6269879A>G | GRCh38 |
NC_000004.11:g.6271606A>G , CM000666.1:g.6271606A>G | GRCh37 |
NC_000004.10:g.6322507A>G | NCBI36 |
NG_011700.1:g.5030A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000506588.6:n.30A>G | ||
ENST00000682275.1:c.-141A>G | ENSP00000507852.1:n.-141A>G | |
ENST00000673991.1:c.-137A>G | ENSP00000501033.1:n.-137A>G | |
ENST00000226760.5:c.-141A>G MANE Select | ENSP00000226760.1:n.-141A>G | |
ENST00000503569.5:c.-137A>G | ENSP00000423337.1:n.-137A>G | |
ENST00000506588.5:n.30A>G | ||
NM_001145853.1:c.-137A>G | NP_001139325.1:n.-137A>G | |
NM_006005.3:c.-141A>G MANE Select | NP_005996.2:n.-141A>G | |
XM_017008586.1:c.5-7572A>G | XP_016864075.1:n.5-7572A>G |