HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73641255A>C , CM000664.2:g.73641255A>C | GRCh38 |
NC_000002.11:g.73868382A>C , CM000664.1:g.73868382A>C | GRCh37 |
NC_000002.10:g.73721890A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.374T>G (NAT8) MANE Select | ENSP00000272425.3:p.Leu125Arg | |
ENST00000652439.1:n.173A>C (ALMS1P1) | ||
ENST00000272425.3:c.374T>G (NAT8) | ENSP00000272425.3:p.Leu125Arg | |
NM_003960.3:c.374T>G (NAT8) | NP_003951.3:p.Leu125Arg | |
NM_003960.4:c.374T>G (NAT8) MANE Select | NP_003951.3:p.Leu125Arg |