Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72722202G>C , CM000678.2:g.72722202G>C | GRCh38 |
| NC_000016.9:g.72756101G>C , CM000678.1:g.72756101G>C | GRCh37 |
| NC_000016.8:g.71313602G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_171702.1:n.328+8213G>C | |
| NR_171703.1:n.285+8786G>C | |
| NR_171704.1:n.285+8786G>C | |
| NR_171705.1:n.202-23203G>C | |
| XM_017023920.1:c.581+8786G>C | XP_016879409.1:n.581+8786G>C |