HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053350C>A , CM000664.2:g.223053350C>A | GRCh38 |
NC_000002.11:g.223918068C>A , CM000664.1:g.223918068C>A | GRCh37 |
NC_000002.10:g.223626312C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.*7C>A MANE Select | ENSP00000281830.5:n.*7C>A | |
ENST00000281830.3:c.*7C>A | ENSP00000281830.4:n.*7C>A | |
ENST00000488477.2:n.75+1076C>A | ||
NM_080671.3:c.*7C>A | NP_542402.3:n.*7C>A | |
NM_080671.4:c.*7C>A MANE Select | NP_542402.4:n.*7C>A |