HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38148514T>C , CM000670.2:g.38148514T>C | GRCh38 |
NC_000008.10:g.38006032T>C , CM000670.1:g.38006032T>C | GRCh37 |
NC_000008.9:g.38125189T>C | NCBI36 |
NG_011827.1:g.7569A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.178+127A>G MANE Select | ENSP00000276449.3:n.178+127A>G | |
ENST00000276449.8:c.178+127A>G | ENSP00000276449.3:n.178+127A>G | |
ENST00000520114.1:n.479A>G | ||
ENST00000521236.1:c.-101+127A>G | ENSP00000430030.1:n.-101+127A>G | |
ENST00000522050.1:c.114+127A>G | ||
NM_000349.2:c.178+127A>G | NP_000340.2:n.178+127A>G | |
XM_006716392.1:c.178+127A>G | XP_006716455.1:n.178+127A>G | |
NM_000349.3:c.178+127A>G MANE Select | NP_000340.2:n.178+127A>G |