HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14141620T>G , CM000665.2:g.14141620T>G | GRCh38 |
NC_000003.11:g.14183120T>G , CM000665.1:g.14183120T>G | GRCh37 |
NC_000003.10:g.14158121T>G | NCBI36 |
NG_008975.1:g.21681T>G , LRG_435:g.21681T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432444.2:c.*1058T>G | ENSP00000395617.1:n.*1058T>G | |
ENST00000306077.5:c.1028T>G MANE Select | ENSP00000303992.5:p.Leu343Arg | |
ENST00000306077.4:c.1028T>G | ENSP00000303992.4:p.Leu343Arg | |
ENST00000601399.3:n.327+2323T>G | ||
ENST00000608606.1:c.236+2323T>G | ||
NM_024334.2:c.1028T>G , LRG_435t1:c.1028T>G | NP_077310.1:p.Leu343Arg | |
XM_011534109.1:c.923T>G | XP_011532411.1:p.Leu308Arg | |
XM_017007176.2:c.923T>G | XP_016862665.1:p.Leu308Arg | |
NM_024334.3:c.1028T>G MANE Select | NP_077310.1:p.Leu343Arg |