Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.5857040A>C , CM000680.2:g.5857040A>C | GRCh38 |
| NC_000018.9:g.5857039A>C , CM000680.1:g.5857039A>C | GRCh37 |
| NC_000018.8:g.5847039A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_172494.1:n.603-21403A>C | ||
| NR_172495.1:n.603-19213A>C | ||
| NR_172496.1:n.603-19213A>C | ||
| NR_172497.1:n.603-19213A>C | ||
| NR_172498.1:n.663-10073A>C | ||
| NR_172499.1:n.603-19213A>C | ||
| NR_172500.1:n.603-19213A>C | ||
| NR_172501.1:n.603-19213A>C | ||
| NR_172502.1:n.603-19213A>C | ||
| NR_172503.1:n.603-19213A>C |