dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30880476T>A , CM000668.2:g.30880476T>A | GRCh38 |
| NC_000006.11:g.30848253T>A , CM000668.1:g.30848253T>A | GRCh37 |
| NC_000006.10:g.30956232T>A | NCBI36 |
| NG_029066.1:g.1393T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502955.5:c.-270-422T>A | ENSP00000424346.1:n.-270-422T>A | |
| ENST00000505066.5:c.-43+3917T>A | ENSP00000421189.1:n.-43+3917T>A |