HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21174826A>T , CM000674.2:g.21174826A>T | GRCh38 |
NC_000012.11:g.21327760A>T , CM000674.1:g.21327760A>T | GRCh37 |
NC_000012.10:g.21219027A>T | NCBI36 |
NG_011745.1:g.48633A>T , LRG_1022:g.48633A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.359+117A>T MANE Select | ENSP00000256958.2:n.359+117A>T | |
ENST00000256958.2:c.359+117A>T | ENSP00000256958.2:n.359+117A>T | |
ENST00000543498.5:c.426-1950A>T | ||
NM_006446.4:c.359+117A>T , LRG_1022t1:c.359+117A>T | NP_006437.3:n.359+117A>T | |
NM_006446.5:c.359+117A>T MANE Select | NP_006437.3:n.359+117A>T |