dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43836834T>C , CM000668.2:g.43836834T>C | GRCh38 |
| NC_000006.11:g.43804571T>C , CM000668.1:g.43804571T>C | GRCh37 |
| NC_000006.10:g.43912549T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744131.1:n.2326T>C | ||
| XR_001744132.1:n.2326T>C | ||
| NM_001318876.2:c.945+307563T>C | NP_001305805.1:n.945+307563T>C |