HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474321T>C , CM000677.2:g.48474321T>C | GRCh38 |
NC_000015.9:g.48766518T>C , CM000677.1:g.48766518T>C | GRCh37 |
NC_000015.8:g.46553810T>C | NCBI36 |
NG_008805.2:g.176468A>G , LRG_778:g.176468A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4144A>G | ENSP00000453958.2:p.Asn1382Asp | |
ENST00000674301.2:c.4144A>G | ENSP00000501333.2:p.Asn1382Asp | |
ENST00000684448.1:n.2818A>G | ||
ENST00000316623.10:c.4144A>G MANE Select | ENSP00000325527.5:p.Asn1382Asp | |
ENST00000316623.9:c.4144A>G | ENSP00000325527.5:p.Asn1382Asp | |
ENST00000537463.6:c.816A>G | ENSP00000440294.2:p.Arg272= | |
NM_000138.4:c.4144A>G , LRG_778t1:c.4144A>G | NP_000129.3:p.Asn1382Asp | |
NM_000138.5:c.4144A>G MANE Select | NP_000129.3:p.Asn1382Asp |