Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104766758C= , CM000676.2:g.104766758C= | GRCh38 |
| NC_000014.8:g.105233095C= , CM000676.1:g.105233095C= | GRCh37 |
| NC_000014.7:g.104304140C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000553819.5:c.471-32C= | ENSP00000451427.1:n.471-32C= |
| XR_001750914.2:n.113+85G= | |
| XR_001750915.2:n.113+85G= | |
| XR_001750916.2:n.120+85G= | |
| XR_429419.4:n.993C= |