dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91166134C>A , CM000671.2:g.91166134C>A | GRCh38 |
| NC_000009.11:g.93928416C>A , CM000671.1:g.93928416C>A | GRCh37 |
| NC_000009.10:g.92968237C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930113.1:n.264-4539C>A | ||
| XR_930114.1:n.268-4539C>A | ||
| XR_930115.1:n.259-4539C>A | ||
| XR_930116.1:n.618-4539C>A | ||
| XR_930117.1:n.597-4539C>A | ||
| NR_135306.1:n.161-16335C>A |