HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622727T>C , CM000670.2:g.10622727T>C | GRCh38 |
NC_000008.10:g.10480237T>C , CM000670.1:g.10480237T>C | GRCh37 |
NC_000008.9:g.10517647T>C | NCBI36 |
NG_028035.1:g.37381A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.475A>G MANE Select | ENSP00000371923.3:p.Asn159Asp | |
ENST00000329335.3:n.725A>G | ||
ENST00000382483.3:c.475A>G | ENSP00000371923.3:p.Asn159Asp | |
NM_178857.5:c.475A>G | NP_849188.4:p.Asn159Asp | |
NM_178857.6:c.475A>G MANE Select | NP_849188.4:p.Asn159Asp |