HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847138C>A , CM000663.2:g.11847138C>A | GRCh38 |
NC_000001.10:g.11907195C>A , CM000663.1:g.11907195C>A | GRCh37 |
NC_000001.9:g.11829782C>A | NCBI36 |
NG_012926.1:g.5646G>T , LRG_751:g.5646G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000400892.3:c.*1962-439C>A (CLCN6) | ENSP00000496938.1:n.*1962-439C>A | |
ENST00000446542.5:n.782-296C>A (NPPA-AS1) | ||
ENST00000376476.1:c.275G>T (NPPA) | ENSP00000365659.1:p.Ser92Ile | |
ENST00000376480.7:c.425G>T (NPPA) MANE Select | ENSP00000365663.3:p.Ser142Ile | |
ENST00000610706.1:c.425G>T (NPPA) | ENSP00000483195.1:p.Ser142Ile | |
NM_006172.3:c.425G>T , LRG_751t1:c.425G>T (NPPA) | NP_006163.1:p.Ser142Ile | |
NR_037806.1:n.1480-296C>A (NPPA-AS1) | ||
NM_006172.4:c.425G>T (NPPA) MANE Select | NP_006163.1:p.Ser142Ile |