Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578924T>G , CM000684.2:g.50578924T>G | GRCh38 |
| NC_000022.10:g.51017353T>G , CM000684.1:g.51017353T>G | GRCh37 |
| NC_000022.9:g.49364219T>G | NCBI36 |
| NG_012643.1:g.4744A>C | |
| NG_029213.1:g.9076A>C , LRG_855:g.9076A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452668.1:n.319+112A>C | ||
| ENST00000453634.5:c.328+112A>C | ENSP00000457031.1:n.328+112A>C | |
| ENST00000492556.5:n.2189+112A>C | ||
| NR_027928.2:n.1551+112A>C |