Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206776020A= , CM000663.2:g.206776020A= | GRCh38 |
| NC_000001.10:g.206949365A= , CM000663.1:g.206949365A= | GRCh37 |
| NC_000001.9:g.205015988A= | NCBI36 |
| NG_012088.1:g.1475T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153758.5:c.-149+4942A= MANE Select | NP_715639.2:n.-149+4942A= |
| ENST00000659997.3:c.-149+4942A= MANE Select | ENSP00000499459.2:n.-149+4942A= |
| NM_001393490.1:c.-149+5190A= | NP_001380419.1:n.-149+5190A= |
| NM_153758.3:c.-35+4942A= | NP_715639.1:n.-35+4942A= |
| ENST00000656872.2:c.-149+5190A= | ENSP00000499487.2:n.-149+5190A= |
| ENST00000659997.2:c.-149+4942A= | ENSP00000499459.2:n.-149+4942A= |
| ENST00000662320.1:n.67+5190A= |