Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.87147675T>C , CM000663.2:g.87147675T>C | GRCh38 |
| NC_000001.10:g.87613358T>C , CM000663.1:g.87613358T>C | GRCh37 |
| NC_000001.9:g.87385946T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370548.3:c.871+13957T>C | ENSP00000359579.1:n.871+13957T>C | |
| NR_026989.1:n.335+13957T>C |