dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28351523A>T , CM000669.2:g.28351523A>T | GRCh38 |
| NC_000007.13:g.28391142A>T , CM000669.1:g.28391142A>T | GRCh37 |
| NC_000007.12:g.28357667A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396299.6:c.-25+52082A>T | ENSP00000379593.2:n.-25+52082A>T | |
| NM_182899.4:c.-25+52082A>T | NP_878902.2:n.-25+52082A>T | |
| NM_182899.5:c.-25+52082A>T | NP_878902.2:n.-25+52082A>T |