clingenPreferredTitle
is now communityStandardTitle
HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196729581G>T , CM000663.2:g.196729581G>T | GRCh38 |
NC_000001.10:g.196698711G>T , CM000663.1:g.196698711G>T | GRCh37 |
NC_000001.9:g.194965334G>T | NCBI36 |
NG_007259.1:g.82571G>T , LRG_47:g.82571G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.9:c.2413+1059G>T MANE Select | ENSP00000356399.4:p.= | |
ENST00000367429.8:c.2413+1059G>T | ENSP00000356399.4:p.= | |
ENST00000466229.5:n.4429+1059G>T | ||
NM_000186.3:c.2413+1059G>T , LRG_47t1:c.2413+1059G>T | NP_000177.2:p.= | |
XR_001737134.2:n.2599+1059G>T | ||
NM_000186.4:c.2413+1059G>T MANE Select | NP_000177.2:p.= |