HGVS | Genome Assembly |
---|---|
NC_000014.9:g.76371503C>A , CM000676.2:g.76371503C>A | GRCh38 |
NC_000014.8:g.76837846C>A , CM000676.1:g.76837846C>A | GRCh37 |
NC_000014.7:g.75907599C>A | NCBI36 |
NG_012278.1:g.5157C>A | |
NG_012278.2:g.5157C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380887.7:c.-215C>A | ENSP00000370270.2:n.-215C>A | |
ENST00000505752.6:c.-215C>A | ENSP00000423004.1:n.-215C>A | |
ENST00000512784.6:c.2+60587C>A | ENSP00000424992.2:n.2+60587C>A | |
ENST00000505752.5:c.-215C>A | ENSP00000423004.1:n.-215C>A | |
ENST00000512784.5:c.2+60587C>A | ENSP00000424992.1:n.2+60587C>A | |
NM_004452.3:c.-215C>A | NP_004443.3:n.-215C>A | |
XM_011536548.1:c.-215C>A | XP_011534850.1:n.-215C>A | |
NM_004452.4:c.-215C>A | NP_004443.3:n.-215C>A |