HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38148693G>A , CM000670.2:g.38148693G>A | GRCh38 |
NC_000008.10:g.38006211G>A , CM000670.1:g.38006211G>A | GRCh37 |
NC_000008.9:g.38125368G>A | NCBI36 |
NG_011827.1:g.7390C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.126C>T MANE Select | ENSP00000276449.3:p.Gly42= | |
ENST00000276449.8:c.126C>T | ENSP00000276449.3:p.Gly42= | |
ENST00000520114.1:n.300C>T | ||
ENST00000521236.1:c.-153C>T | ENSP00000430030.1:n.-153C>T | |
ENST00000522050.1:c.62C>T | ||
NM_000349.2:c.126C>T | NP_000340.2:p.Gly42= | |
XM_006716392.1:c.126C>T | XP_006716455.1:p.Gly42= | |
NM_000349.3:c.126C>T MANE Select | NP_000340.2:p.Gly42= |