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