dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33118472C>A , CM000668.2:g.33118472C>A | GRCh38 |
| NC_000006.11:g.33086249C>A , CM000668.1:g.33086249C>A | GRCh37 |
| NC_000006.10:g.33194227C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435074.6:n.522C>A | ||
| ENST00000684891.1:n.409C>A | ||
| ENST00000686632.1:n.415C>A | ||
| ENST00000692641.1:n.418C>A | ||
| ENST00000692715.1:n.540C>A | ||
| ENST00000435074.5:n.511C>A | ||
| ENST00000470997.1:n.364+1252C>A | ||
| NR_001435.1:n.364+1252C>A | ||
| NR_001435.2:n.364+1252C>A |