Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.79043424T= , CM000663.2:g.79043424T= | GRCh38 |
| NC_000001.10:g.79509109T= , CM000663.1:g.79509109T= | GRCh37 |
| NC_000001.9:g.79281697T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000655029.1:c.-113-38205A= | ENSP00000499618.1:n.-113-38205A= | |
| ENST00000656300.1:c.-80-96998A= | ENSP00000499265.1:n.-80-96998A= | |
| ENST00000661030.1:c.-113-38205A= | ENSP00000499792.1:n.-113-38205A= | |
| ENST00000662530.1:c.-81+52059A= | ENSP00000499760.1:n.-81+52059A= | |
| ENST00000662895.1:c.-81+52059A= | ENSP00000499579.1:n.-81+52059A= |