HGVS | Genome Assembly |
---|---|
NC_000001.11:g.226870523G>C , CM000663.2:g.226870523G>C | GRCh38 |
NC_000001.10:g.227058224G>C , CM000663.1:g.227058224G>C | GRCh37 |
NC_000001.9:g.225124847G>C | NCBI36 |
NG_007381.1:g.4952G>C | |
NG_007381.2:g.5340G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366779.6:c.-350+18G>C | ENSP00000355741.2:n.-350+18G>C | |
ENST00000524196.6:c.-350+18G>C | ENSP00000429036.2:n.-350+18G>C | |
ENST00000676884.1:c.-350+18G>C | ENSP00000503200.1:n.-350+18G>C | |
ENST00000676888.1:c.-350+18G>C | ENSP00000504483.1:n.-350+18G>C | |
ENST00000678835.1:c.-476G>C | ENSP00000504343.1:n.-476G>C | |
ENST00000524196.5:c.-350+18G>C | ENSP00000429036.1:n.-350+18G>C |