Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136648219C= , CM000685.2:g.136648219C= | GRCh38 |
| NC_000023.10:g.135730378C= , CM000685.1:g.135730378C= | GRCh37 |
| NC_000023.9:g.135558044C= | NCBI36 |
| NG_007280.1:g.5043C= , LRG_141:g.5043C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.-30C= | ENSP00000512122.1:n.-30C= | |
| ENST00000695725.1:c.-30C= | ENSP00000512123.1:n.-30C= | |
| ENST00000695726.1:n.14C= | ||
| ENST00000370629.7:c.-30C= MANE Select | ENSP00000359663.2:n.-30C= | |
| ENST00000370629.6:c.-30C= | ENSP00000359663.2:n.-30C= | |
| NM_000074.2:c.-30C= , LRG_141t1:c.-30C= | NP_000065.1:n.-30C= | |
| NM_000074.3:c.-30C= MANE Select | NP_000065.1:n.-30C= |