Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10039480C= , CM000666.2:g.10039480C= | GRCh38 |
| NC_000004.11:g.10041104C= , CM000666.1:g.10041104C= | GRCh37 |
| NC_000004.10:g.9650202C= | NCBI36 |
| NG_011540.1:g.5769G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001290.1:c.-41+650G= | NP_001001290.1:n.-41+650G= |
| NM_001001290.2:c.-41+650G= | NP_001001290.1:n.-41+650G= |
| ENST00000309065.7:c.-41+650G= | ENSP00000311383.3:n.-41+650G= |
| ENST00000481042.1:n.259+650G= | |
| ENST00000505104.5:n.81+650G= | |
| ENST00000506583.5:c.-41+650G= | ENSP00000422209.1:n.-41+650G= |
| ENST00000513129.1:c.-40-13474G= | ENSP00000426800.1:n.-40-13474G= |
| XM_006713969.2:c.-41+650G= | XP_006714032.1:n.-41+650G= |
| XM_011513857.1:c.-41+650G= | XP_011512159.1:n.-41+650G= |