dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22100177G>T , CM000671.2:g.22100177G>T | GRCh38 |
| NC_000009.11:g.22100176G>T , CM000671.1:g.22100176G>T | GRCh37 |
| NC_000009.10:g.22090176G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2698+2813G>T | ||
| NR_047532.1:n.1487+2813G>T | ||
| NR_047534.1:n.751+2813G>T | ||
| NR_047535.1:n.781-12143G>T | ||
| NR_047536.1:n.645-12143G>T | ||
| NR_047537.1:n.781-20023G>T | ||
| NR_047538.1:n.645-20023G>T | ||
| NR_047543.1:n.781-12143G>T | ||
| NR_120536.1:n.645-20327G>T |