dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.106120159C>G , CM000668.2:g.106120159C>G | GRCh38 |
| NC_000006.11:g.106568034C>G , CM000668.1:g.106568034C>G | GRCh37 |
| NC_000006.10:g.106674727C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636335.1:c.458-41844G>C | ENSP00000490221.1:n.458-41844G>C | |
| ENST00000636437.1:c.458-73334G>C | ENSP00000490376.1:n.458-73334G>C |