Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204802C= , CM000676.2:g.96204802C= | GRCh38 |
| NC_000014.8:g.96671139C= , CM000676.1:g.96671139C= | GRCh37 |
| NC_000014.7:g.95740892C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000623.3:c.-192C= | NP_000614.1:n.-192C= |
| ENST00000542454.2:c.-2965C= | ENSP00000439459.2:n.-2965C= |
| ENST00000554311.1:c.-197C= | ENSP00000450482.1:n.-197C= |