HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586557A>G , CM000673.2:g.67586557A>G | GRCh38 |
NC_000011.9:g.67354028A>G , CM000673.1:g.67354028A>G | GRCh37 |
NC_000011.8:g.67110604A>G | NCBI36 |
NG_012075.1:g.7963A>G , LRG_723:g.7963A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.505A>G | ENSP00000381604.1:p.Asn169Asp | |
ENST00000398606.10:c.613A>G MANE Select | ENSP00000381607.3:p.Asn205Asp | |
ENST00000398603.5:c.505A>G | ENSP00000381604.1:p.Asn169Asp | |
ENST00000398606.7:c.613A>G | ENSP00000381607.3:p.Asn205Asp | |
ENST00000467591.1:n.724A>G | ||
ENST00000494593.1:n.1585A>G | ||
ENST00000498765.5:c.676A>G | ||
NM_000852.3:c.613A>G , LRG_723t1:c.613A>G | NP_000843.1:p.Asn205Asp | |
NM_000852.4:c.613A>G MANE Select | NP_000843.1:p.Asn205Asp |