Canonical Allele Identifier:
CA499463522
Community Standard Title: NT_187661.1:g.251083A>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NT_187661.1:g.251083A>G , KI270909.1:g.251083A>G | |
| NC_000017.10:g.34624348A>G , CM000679.1:g.34624348A>G | GRCh37 |
| NC_000017.9:g.31648461A>G | NCBI36 |
| NG_023369.1:g.6383T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021006.5:c.193T>C | NP_066286.1:p.Phe65Leu |
| NR_111964.1:n.470T>C | |
| XR_001756620.1:n.854-755A>G |