clingenPreferredTitle
is now communityStandardTitle
HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196747189C>T , CM000663.2:g.196747189C>T | GRCh38 |
NC_000001.10:g.196716319C>T , CM000663.1:g.196716319C>T | GRCh37 |
NC_000001.9:g.194982942C>T | NCBI36 |
NG_007259.1:g.100179C>T , LRG_47:g.100179C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.9:c.3572C>T MANE Select | ENSP00000356399.4:p.Ser1191Leu | |
ENST00000367429.8:c.3572C>T | ENSP00000356399.4:p.Ser1191Leu | |
ENST00000466229.5:n.6670C>T | ||
NM_000186.3:c.3572C>T , LRG_47t1:c.3572C>T | NP_000177.2:p.Ser1191Leu | |
XR_001737134.2:n.3758C>T | ||
NM_000186.4:c.3572C>T MANE Select | NP_000177.2:p.Ser1191Leu |