HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14129560A>C , CM000665.2:g.14129560A>C | GRCh38 |
NC_000003.11:g.14171060A>C , CM000665.1:g.14171060A>C | GRCh37 |
NC_000003.10:g.14146061A>C | NCBI36 |
NG_008975.1:g.9621A>C , LRG_435:g.9621A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*191A>C | ENSP00000395617.1:n.*191A>C | |
ENST00000306077.5:c.161A>C MANE Select | ENSP00000303992.5:p.Glu54Ala | |
ENST00000306077.4:c.161A>C | ENSP00000303992.4:p.Glu54Ala | |
ENST00000432444.1:c.*191A>C | ENSP00000395617.1:n.*191A>C | |
NM_024334.2:c.161A>C , LRG_435t1:c.161A>C | NP_077310.1:p.Glu54Ala | |
XM_011534109.1:c.56A>C | XP_011532411.1:p.Glu19Ala | |
XM_017007176.2:c.56A>C | XP_016862665.1:p.Glu19Ala | |
NM_024334.3:c.161A>C MANE Select | NP_077310.1:p.Glu54Ala |