HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14130917A>T , CM000665.2:g.14130917A>T | GRCh38 |
NC_000003.11:g.14172417A>T , CM000665.1:g.14172417A>T | GRCh37 |
NC_000003.10:g.14147418A>T | NCBI36 |
NG_008975.1:g.10978A>T , LRG_435:g.10978A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432444.2:c.*288A>T | ENSP00000395617.1:n.*288A>T | |
ENST00000306077.5:c.258A>T MANE Select | ENSP00000303992.5:p.Gly86= | |
ENST00000306077.4:c.258A>T | ENSP00000303992.4:p.Gly86= | |
ENST00000432444.1:c.*288A>T | ENSP00000395617.1:n.*288A>T | |
NM_024334.2:c.258A>T , LRG_435t1:c.258A>T | NP_077310.1:p.Gly86= | |
XM_011534109.1:c.153A>T | XP_011532411.1:p.Gly51= | |
XM_017007176.2:c.153A>T | XP_016862665.1:p.Gly51= | |
NM_024334.3:c.258A>T MANE Select | NP_077310.1:p.Gly86= |