Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45704381C= , CM000679.2:g.45704381C= | GRCh38 |
| NC_000017.10:g.43781747C= , CM000679.1:g.43781747C= | GRCh37 |
| NC_000017.9:g.41137530C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001256299.2:c.-493+74223C= | NP_001243228.1:n.-493+74223C= |
| NM_001256299.3:c.-493+74223C= | NP_001243228.1:n.-493+74223C= |
| NM_001303016.1:c.-185+31479C= | NP_001289945.1:n.-185+31479C= |
| ENST00000587305.1:n.447+31479C= | |
| ENST00000634540.1:c.-493+74223C= | ENSP00000488912.1:n.-493+74223C= |