HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14130928A>C , CM000665.2:g.14130928A>C | GRCh38 |
NC_000003.11:g.14172428A>C , CM000665.1:g.14172428A>C | GRCh37 |
NC_000003.10:g.14147429A>C | NCBI36 |
NG_008975.1:g.10989A>C , LRG_435:g.10989A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*299A>C | ENSP00000395617.1:n.*299A>C | |
ENST00000306077.5:c.269A>C MANE Select | ENSP00000303992.5:p.His90Pro | |
ENST00000306077.4:c.269A>C | ENSP00000303992.4:p.His90Pro | |
ENST00000432444.1:c.*299A>C | ENSP00000395617.1:n.*299A>C | |
NM_024334.2:c.269A>C , LRG_435t1:c.269A>C | NP_077310.1:p.His90Pro | |
XM_011534109.1:c.164A>C | XP_011532411.1:p.His55Pro | |
XM_017007176.2:c.164A>C | XP_016862665.1:p.His55Pro | |
NM_024334.3:c.269A>C MANE Select | NP_077310.1:p.His90Pro |