dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.13912749C>T , CM000666.2:g.13912749C>T | GRCh38 |
| NC_000004.11:g.13914373C>T , CM000666.1:g.13914373C>T | GRCh37 |
| NC_000004.10:g.13523471C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121681.1:n.350-16601C>T | ||
| XR_001741379.1:n.5109-18795C>T | ||
| XR_001741381.2:n.5108+74290C>T |