HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44004779C>T , CM000679.2:g.44004779C>T | GRCh38 |
NC_000017.10:g.42082147C>T , CM000679.1:g.42082147C>T | GRCh37 |
NC_000017.9:g.39437673C>T | NCBI36 |
NG_008106.1:g.5116C>T | |
NG_023338.1:g.4691G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293404.8:c.116C>T (NAGS) MANE Select | ENSP00000293404.2:p.Ala39Val | |
ENST00000293404.7:c.116C>T (NAGS) | ENSP00000293404.2:p.Ala39Val | |
ENST00000589767.1:c.23C>T (NAGS) | ENSP00000465408.1:p.Ala8Val | |
NM_153006.2:c.116C>T (NAGS) | NP_694551.1:p.Ala39Val | |
XM_011524438.1:c.116C>T (NAGS) | XP_011522740.1:p.Ala39Val | |
XM_011525035.1:c.-463+18793G>A (PYY) | XP_011523337.1:n.-463+18793G>A | |
NM_153006.3:c.116C>T (NAGS) MANE Select | NP_694551.1:p.Ala39Val |