Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.21380911A= , CM000679.2:g.21380911A= | GRCh38 |
| NC_000017.10:g.21284223A= , CM000679.1:g.21284223A= | GRCh37 |
| NC_000017.9:g.21224816A= | NCBI36 |
| NG_042809.1:g.9525A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021012.5:c.-179+3998A= MANE Select | NP_066292.2:n.-179+3998A= |
| ENST00000583088.6:c.-179+3998A= MANE Select | ENSP00000463778.1:n.-179+3998A= |
| NM_021012.4:c.-179+3998A= | NP_066292.2:n.-179+3998A= |
| ENST00000583088.5:c.-179+3998A= | ENSP00000463778.1:n.-179+3998A= |
| XM_005256625.3:c.-179+3585A= | XP_005256682.1:n.-179+3585A= |
| XM_005256625.5:c.-179+3585A= | XP_005256682.1:n.-179+3585A= |