HGVS | Genome Assembly |
---|---|
NC_000014.9:g.76371284T>C , CM000676.2:g.76371284T>C | GRCh38 |
NC_000014.8:g.76837627T>C , CM000676.1:g.76837627T>C | GRCh37 |
NC_000014.7:g.75907380T>C | NCBI36 |
NG_012278.1:g.4938T>C | |
NG_012278.2:g.4938T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512784.6:c.2+60368T>C | ENSP00000424992.2:n.2+60368T>C | |
ENST00000505752.5:c.-434T>C | ENSP00000423004.1:n.-434T>C | |
ENST00000512784.5:c.2+60368T>C | ENSP00000424992.1:n.2+60368T>C | |
NM_004452.4:c.-434T>C | NP_004443.3:n.-434T>C |