Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206775208G= , CM000663.2:g.206775208G= | GRCh38 |
| NC_000001.10:g.206948553G= , CM000663.1:g.206948553G= | GRCh37 |
| NC_000001.9:g.205015176G= | NCBI36 |
| NG_012088.1:g.2287C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153758.5:c.-149+4130G= MANE Select | NP_715639.2:n.-149+4130G= |
| ENST00000659997.3:c.-149+4130G= MANE Select | ENSP00000499459.2:n.-149+4130G= |
| NM_001393490.1:c.-149+4378G= | NP_001380419.1:n.-149+4378G= |
| NM_153758.3:c.-35+4130G= | NP_715639.1:n.-35+4130G= |
| ENST00000656872.2:c.-149+4378G= | ENSP00000499487.2:n.-149+4378G= |
| ENST00000659997.2:c.-149+4130G= | ENSP00000499459.2:n.-149+4130G= |
| ENST00000662320.1:n.67+4378G= |