dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2621030C>T , CM000671.2:g.2621030C>T | GRCh38 |
| NC_000009.11:g.2621030C>T , CM000671.1:g.2621030C>T | GRCh37 |
| NC_000009.10:g.2611030C>T | NCBI36 |
| NG_012741.1:g.4238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015375.2:n.274+1070G>A |