dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.89080244A>G , CM000667.2:g.89080244A>G | GRCh38 |
| NC_000005.9:g.88376061A>G , CM000667.1:g.88376061A>G | GRCh37 |
| NC_000005.8:g.88411817A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948549.1:n.269-14715A>G | ||
| NR_136217.1:n.311-14715A>G | ||
| NR_136218.1:n.401-14715A>G | ||
| NR_136219.1:n.294-14715A>G | ||
| NR_136220.1:n.327-14715A>G | ||
| NR_136221.1:n.220-14715A>G | ||
| NR_136222.1:n.311-14715A>G |