dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30020417A>C , CM000676.2:g.30020417A>C | GRCh38 |
| NC_000014.8:g.30489623A>C , CM000676.1:g.30489623A>C | GRCh37 |
| NC_000014.7:g.29559374A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549503.1:c.33+27293T>G | ENSP00000446866.1:n.33+27293T>G |