HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538916T>C , CM000672.2:g.133538916T>C | GRCh38 |
NC_000010.10:g.135352420T>C , CM000672.1:g.135352420T>C | GRCh37 |
NC_000010.9:g.135202410T>C | NCBI36 |
NG_008383.1:g.16554T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1434T>C MANE Select | ENSP00000252945.3:p.Phe478= | |
ENST00000252945.7:c.1434T>C | ENSP00000252945.3:p.Phe478= | |
ENST00000368520.1:n.1358+1024T>C | ||
ENST00000463117.6:c.1434T>C | ENSP00000440689.1:p.Phe478= | |
ENST00000469258.1:n.530T>C | ||
NM_000773.3:c.1434T>C | NP_000764.1:p.Phe478= | |
NM_000773.4:c.1434T>C MANE Select | NP_000764.1:p.Phe478= |