HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73641198A>T , CM000664.2:g.73641198A>T | GRCh38 |
NC_000002.11:g.73868325A>T , CM000664.1:g.73868325A>T | GRCh37 |
NC_000002.10:g.73721833A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.431T>A (NAT8) MANE Select | ENSP00000272425.3:p.Val144Glu | |
ENST00000652439.1:n.116A>T (ALMS1P1) | ||
ENST00000272425.3:c.431T>A (NAT8) | ENSP00000272425.3:p.Val144Glu | |
NM_003960.3:c.431T>A (NAT8) | NP_003951.3:p.Val144Glu | |
NM_003960.4:c.431T>A (NAT8) MANE Select | NP_003951.3:p.Val144Glu |