Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11254001T>C , CM000678.2:g.11254001T>C | GRCh38 |
| NC_000016.9:g.11347858T>C , CM000678.1:g.11347858T>C | GRCh37 |
| NC_000016.8:g.11255359T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000572173.1:c.-516+4223T>C | ENSP00000461206.1:n.-516+4223T>C |
| ENST00000573910.1:n.160+4223T>C | |
| ENST00000649869.1:n.152+4223T>C | |
| XR_933070.1:n.733+4223T>C | |
| XR_933070.3:n.876+4223T>C |