HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256270A>G , CM000679.2:g.34256270A>G | GRCh38 |
NC_000017.10:g.32583289A>G , CM000679.1:g.32583289A>G | GRCh37 |
NC_000017.9:g.29607402A>G | NCBI36 |
NG_012123.1:g.5994A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.125A>G | ENSP00000462156.1:p.Lys42Arg | |
ENST00000624362.2:n.986A>G | ||
ENST00000225831.4:c.125A>G MANE Select | ENSP00000225831.4:p.Lys42Arg | |
ENST00000580907.5:c.125A>G | ENSP00000462156.1:p.Lys42Arg | |
ENST00000582017.1:n.63A>G | ||
NM_002982.3:c.125A>G | NP_002973.1:p.Lys42Arg | |
NM_002982.4:c.125A>G MANE Select | NP_002973.1:p.Lys42Arg |