HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124405T>A , CM000664.2:g.71124405T>A | GRCh38 |
NC_000002.11:g.71351535T>A , CM000664.1:g.71351535T>A | GRCh37 |
NC_000002.10:g.71205043T>A | NCBI36 |
NG_008977.1:g.10860A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.179A>T MANE Select | ENSP00000244217.5:p.Lys60Met | |
ENST00000244217.5:c.179A>T | ENSP00000244217.5:p.Lys60Met | |
ENST00000413592.5:c.47A>T | ENSP00000391140.1:p.Lys16Met | |
ENST00000486135.1:c.-107A>T | ENSP00000441569.1:n.-107A>T | |
ENST00000494660.6:c.-107A>T | ENSP00000437361.1:n.-107A>T | |
NM_032601.3:c.179A>T | NP_115990.3:p.Lys60Met | |
XM_005264613.2:c.179A>T | XP_005264670.1:p.Lys60Met | |
XR_939729.1:n.248A>T | ||
XR_939729.2:n.248A>T | ||
NM_032601.4:c.179A>T MANE Select | NP_115990.3:p.Lys60Met |