Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88927603G>C , CM000667.2:g.88927603G>C | GRCh38 |
| NC_000005.9:g.88223420G>C , CM000667.1:g.88223420G>C | GRCh37 |
| NC_000005.8:g.88259176G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_104031.1:n.236-15413G>C | |
| NR_109940.1:n.308-13210G>C | |
| NR_109941.1:n.290+21830G>C | |
| NR_136217.1:n.235+22333G>C | |
| NR_136218.1:n.219-15413G>C | |
| NR_136219.1:n.218+22333G>C | |
| NR_136220.1:n.145-15413G>C | |
| NR_136221.1:n.144+22333G>C | |
| NR_136222.1:n.235+22333G>C |