Canonical Allele Identifier:
CA12044635
Community Standard Title: NC_000005.10:g.1252835T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1252835T>C , CM000667.2:g.1252835T>C | GRCh38 |
| NC_000005.9:g.1252950T>C , CM000667.1:g.1252950T>C | GRCh37 |
| NC_000005.8:g.1305950T>C | NCBI36 |
| NG_009265.1:g.47213A>G , LRG_343:g.47213A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_925683.1:n.286+542T>C |