HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38148502G>T , CM000670.2:g.38148502G>T | GRCh38 |
NC_000008.10:g.38006020G>T , CM000670.1:g.38006020G>T | GRCh37 |
NC_000008.9:g.38125177G>T | NCBI36 |
NG_011827.1:g.7581C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.178+139C>A MANE Select | ENSP00000276449.3:n.178+139C>A | |
ENST00000276449.8:c.178+139C>A | ENSP00000276449.3:n.178+139C>A | |
ENST00000520114.1:n.491C>A | ||
ENST00000521236.1:c.-101+139C>A | ENSP00000430030.1:n.-101+139C>A | |
ENST00000522050.1:c.114+139C>A | ||
NM_000349.2:c.178+139C>A | NP_000340.2:n.178+139C>A | |
XM_006716392.1:c.178+139C>A | XP_006716455.1:n.178+139C>A | |
NM_000349.3:c.178+139C>A MANE Select | NP_000340.2:n.178+139C>A |