HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053137A>G , CM000664.2:g.223053137A>G | GRCh38 |
NC_000002.11:g.223917855A>G , CM000664.1:g.223917855A>G | GRCh37 |
NC_000002.10:g.223626099A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.307A>G MANE Select | ENSP00000281830.5:p.Asn103Asp | |
ENST00000281830.3:c.460A>G | ENSP00000281830.4:p.Asn154Asp | |
ENST00000488477.2:n.75+863A>G | ||
NM_080671.3:c.460A>G | NP_542402.3:p.Asn154Asp | |
NM_080671.4:c.307A>G MANE Select | NP_542402.4:p.Asn103Asp |