HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983356A>G , CM000678.2:g.56983356A>G | GRCh38 |
NC_000016.9:g.57017268A>G , CM000678.1:g.57017268A>G | GRCh37 |
NC_000016.8:g.55574769A>G | NCBI36 |
NG_008952.1:g.26434A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1352A>G MANE Select | ENSP00000200676.3:p.Asn451Ser | |
ENST00000650358.1:n.1750A>G | ||
ENST00000200676.7:c.1352A>G | ENSP00000200676.3:p.Asn451Ser | |
ENST00000379780.6:c.1172A>G | ENSP00000369106.2:p.Asn391Ser | |
ENST00000566128.1:c.1157A>G | ENSP00000456276.1:p.Asn386Ser | |
NM_000078.2:c.1352A>G | NP_000069.2:p.Asn451Ser | |
NM_001286085.1:c.1172A>G | NP_001273014.1:p.Asn391Ser | |
NM_000078.3:c.1352A>G MANE Select | NP_000069.2:p.Asn451Ser | |
NM_001286085.2:c.1172A>G | NP_001273014.1:p.Asn391Ser |