dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99144358T>C , CM000666.2:g.99144358T>C | GRCh38 |
| NC_000004.11:g.100065509T>C , CM000666.1:g.100065509T>C | GRCh37 |
| NC_000004.10:g.100284532T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504581.1:n.170-1578A>G | ||
| NR_037884.1:n.680-10187T>C |