Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117323508T>C , CM000669.2:g.117323508T>C | GRCh38 |
| NC_000007.13:g.116963562T>C , CM000669.1:g.116963562T>C | GRCh37 |
| NC_000007.12:g.116750798T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000673785.1:c.-491+22478T>C | ENSP00000501235.1:n.-491+22478T>C |