HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21558994A>G , CM000669.2:g.21558994A>G | GRCh38 |
NC_000007.13:g.21598612A>G , CM000669.1:g.21598612A>G | GRCh37 |
NC_000007.12:g.21565137A>G | NCBI36 |
NG_012886.2:g.20780A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.688A>G MANE Select | ENSP00000475939.1:p.Asn230Asp | |
ENST00000328843.10:c.688A>G | ENSP00000330671.7:p.Asn230Asp | |
ENST00000409508.7:c.688A>G | ENSP00000475939.1:p.Asn230Asp | |
ENST00000620169.4:c.688A>G | ENSP00000481693.1:p.Asn230Asp | |
NM_001277115.1:c.688A>G | NP_001264044.1:p.Asn230Asp | |
NM_001277115.2:c.688A>G MANE Select | NP_001264044.1:p.Asn230Asp |