HGVS | Genome Assembly |
---|---|
NC_000004.12:g.6302982A>G , CM000666.2:g.6302982A>G | GRCh38 |
NC_000004.11:g.6304709A>G , CM000666.1:g.6304709A>G | GRCh37 |
NC_000004.10:g.6355610A>G | NCBI36 |
NG_011700.1:g.38133A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682275.1:c.*514A>G | ENSP00000507852.1:n.*514A>G | |
ENST00000683395.1:c.3164A>G | ||
ENST00000684087.1:c.*514A>G | ENSP00000506978.1:n.*514A>G | |
ENST00000673991.1:c.*514A>G | ENSP00000501033.1:n.*514A>G | |
ENST00000226760.5:c.*514A>G MANE Select | ENSP00000226760.1:n.*514A>G | |
ENST00000507765.1:n.3372A>G | ||
NM_001145853.1:c.*514A>G | NP_001139325.1:n.*514A>G | |
NM_006005.3:c.*514A>G MANE Select | NP_005996.2:n.*514A>G | |
XM_017008586.1:c.*514A>G | XP_016864075.1:n.*514A>G | |
XR_001741566.2:n.1963T>C |