Canonical Allele Identifier:
CA499463516
Community Standard Title: NT_187661.1:g.251081G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NT_187661.1:g.251081G>C , KI270909.1:g.251081G>C | |
| NC_000017.10:g.34624346G>C , CM000679.1:g.34624346G>C | GRCh37 |
| NC_000017.9:g.31648459G>C | NCBI36 |
| NG_023369.1:g.6385C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021006.5:c.195C>G | NP_066286.1:p.Phe65Leu |
| NR_111964.1:n.472C>G | |
| XR_001756620.1:n.854-757G>C |