Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10035000A>T , CM000666.2:g.10035000A>T | GRCh38 |
| NC_000004.11:g.10036624A>T , CM000666.1:g.10036624A>T | GRCh37 |
| NC_000004.10:g.9645722A>T | NCBI36 |
| NG_011540.1:g.10249T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309065.7:c.-41+5130T>A | ENSP00000311383.3:n.-41+5130T>A | |
| ENST00000481042.1:n.1400T>A | ||
| ENST00000505104.5:n.81+5130T>A | ||
| ENST00000506583.5:c.-41+5130T>A | ENSP00000422209.1:n.-41+5130T>A | |
| ENST00000513129.1:c.-40-8994T>A | ENSP00000426800.1:n.-40-8994T>A | |
| NM_001001290.1:c.-41+5130T>A | NP_001001290.1:n.-41+5130T>A | |
| XM_006713969.2:c.-41+5130T>A | XP_006714032.1:n.-41+5130T>A | |
| XM_011513857.1:c.-41+5130T>A | XP_011512159.1:n.-41+5130T>A | |
| NM_001001290.2:c.-41+5130T>A | NP_001001290.1:n.-41+5130T>A |