dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47905119C>T , CM000674.2:g.47905119C>T | GRCh38 |
| NC_000012.11:g.48298902C>T , CM000674.1:g.48298902C>T | GRCh37 |
| NC_000012.10:g.46585169C>T | NCBI36 |
| NG_008731.1:g.4913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395324.6:c.-83-22345G>A | ENSP00000378734.2:n.-83-22345G>A |