clingenPreferredTitle
is now communityStandardTitle
HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196704863A>C , CM000663.2:g.196704863A>C | GRCh38 |
NC_000001.10:g.196673993A>C , CM000663.1:g.196673993A>C | GRCh37 |
NC_000001.9:g.194940616A>C | NCBI36 |
NG_007259.1:g.57853A>C , LRG_47:g.57853A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.9:c.1337-8872A>C MANE Select | ENSP00000356399.4:p.= | |
ENST00000367429.8:c.1337-8872A>C | ENSP00000356399.4:p.= | |
ENST00000466229.5:n.3353-8872A>C | ||
NM_000186.3:c.1337-8872A>C , LRG_47t1:c.1337-8872A>C | NP_000177.2:p.= | |
XR_001737134.2:n.1422-8872A>C | ||
NM_000186.4:c.1337-8872A>C MANE Select | NP_000177.2:p.= |