Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071570T>C , CM000667.2:g.111071570T>C | GRCh38 |
| NC_000005.9:g.110407268T>C , CM000667.1:g.110407268T>C | GRCh37 |
| NC_000005.8:g.110435167T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.34+53T>C | ENSP00000399099.2:n.34+53T>C | |
| NR_045089.1:n.1438+53T>C | ||
| NR_045089.2:n.1456+53T>C |