HGVS | Genome Assembly |
---|---|
NC_000007.14:g.121334718A>C , CM000669.2:g.121334718A>C | GRCh38 |
NC_000007.13:g.120974772A>C , CM000669.1:g.120974772A>C | GRCh37 |
NC_000007.12:g.120762008A>C | NCBI36 |
NG_029242.1:g.14352A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222462.3:c.633+2754A>C MANE Select | ENSP00000222462.2:n.633+2754A>C | |
ENST00000222462.2:c.633+2754A>C | ENSP00000222462.2:n.633+2754A>C | |
ENST00000361301.6:c.603+2754A>C | ENSP00000355065.2:n.603+2754A>C | |
NM_016087.2:c.603+2754A>C | NP_057171.2:n.603+2754A>C | |
NM_057168.1:c.633+2754A>C | NP_476509.1:n.633+2754A>C | |
NM_057168.2:c.633+2754A>C MANE Select | NP_476509.1:n.633+2754A>C |