Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185968952A>T , CM000665.2:g.185968952A>T | GRCh38 |
| NC_000003.11:g.185686741A>T , CM000665.1:g.185686741A>T | GRCh37 |
| NC_000003.10:g.187169435A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033752.2:n.349+235A>T | |
| NR_151491.1:n.137-2663A>T | |
| ENST00000306399.3:n.270+244A>T | |
| ENST00000416764.5:n.349+235A>T | |
| ENST00000422108.5:n.288+303A>T | |
| ENST00000423298.5:n.137-2663A>T | |
| ENST00000436375.5:n.342+244A>T | |
| ENST00000445507.1:n.279+303A>T |