Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.89058950C>T , CM000667.2:g.89058950C>T | GRCh38 |
| NC_000005.9:g.88354767C>T , CM000667.1:g.88354767C>T | GRCh37 |
| NC_000005.8:g.88390523C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948549.1:n.269-36009C>T | ||
| NR_136217.1:n.311-36009C>T | ||
| NR_136218.1:n.401-36009C>T | ||
| NR_136219.1:n.294-36009C>T | ||
| NR_136220.1:n.327-36009C>T | ||
| NR_136221.1:n.220-36009C>T | ||
| NR_136222.1:n.311-36009C>T |