dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22103814A>C , CM000671.2:g.22103814A>C | GRCh38 |
| NC_000009.11:g.22103813A>C , CM000671.1:g.22103813A>C | GRCh37 |
| NC_000009.10:g.22093813A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2698+6450A>C | ||
| NR_047532.1:n.1487+6450A>C | ||
| NR_047534.1:n.751+6450A>C | ||
| NR_047535.1:n.781-8506A>C | ||
| NR_047536.1:n.645-8506A>C | ||
| NR_047537.1:n.781-16386A>C | ||
| NR_047538.1:n.645-16386A>C | ||
| NR_047543.1:n.781-8506A>C | ||
| NR_120536.1:n.645-16690A>C |