HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14129511G>T , CM000665.2:g.14129511G>T | GRCh38 |
NC_000003.11:g.14171011G>T , CM000665.1:g.14171011G>T | GRCh37 |
NC_000003.10:g.14146012G>T | NCBI36 |
NG_008975.1:g.9572G>T , LRG_435:g.9572G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432444.2:c.*142G>T | ENSP00000395617.1:n.*142G>T | |
ENST00000306077.5:c.112G>T MANE Select | ENSP00000303992.5:p.Val38Leu | |
ENST00000306077.4:c.112G>T | ENSP00000303992.4:p.Val38Leu | |
ENST00000432444.1:c.*142G>T | ENSP00000395617.1:n.*142G>T | |
NM_024334.2:c.112G>T , LRG_435t1:c.112G>T | NP_077310.1:p.Val38Leu | |
XM_011534109.1:c.7G>T | XP_011532411.1:p.Val3Leu | |
XM_017007176.2:c.7G>T | XP_016862665.1:p.Val3Leu | |
NM_024334.3:c.112G>T MANE Select | NP_077310.1:p.Val38Leu |