dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168488807T>G , CM000666.2:g.168488807T>G | GRCh38 |
| NC_000004.11:g.169409958T>G , CM000666.1:g.169409958T>G | GRCh37 |
| NC_000004.10:g.169646533T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505150.5:n.601+1551A>C | ||
| XR_001741448.2:n.2647A>C |