dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77335605C>A , CM000674.2:g.77335605C>A | GRCh38 |
| NC_000012.11:g.77729385C>A , CM000674.1:g.77729385C>A | GRCh37 |
| NC_000012.10:g.76253516C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550042.2:c.-337+10391C>A | ENSP00000489639.1:n.-337+10391C>A | |
| XR_945127.1:n.217-5123G>T |