dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168901031G>C , CM000664.2:g.168901031G>C | GRCh38 |
| NC_000002.11:g.169757541G>C , CM000664.1:g.169757541G>C | GRCh37 |
| NC_000002.10:g.169465787G>C | NCBI36 |
| NG_011682.1:g.4792G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451987.5:c.-172-10345C>G | ENSP00000393322.1:n.-172-10345C>G | |
| ENST00000472216.2:n.177-10345C>G |