Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185968875T>C , CM000665.2:g.185968875T>C | GRCh38 |
| NC_000003.11:g.185686664T>C , CM000665.1:g.185686664T>C | GRCh37 |
| NC_000003.10:g.187169358T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306399.3:n.270+167T>C | ||
| ENST00000416764.5:n.349+158T>C | ||
| ENST00000422108.5:n.288+226T>C | ||
| ENST00000423298.5:n.137-2740T>C | ||
| ENST00000436375.5:n.342+167T>C | ||
| ENST00000445507.1:n.279+226T>C | ||
| NR_033752.2:n.349+158T>C | ||
| NR_151491.1:n.137-2740T>C |