Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70398260C>T , CM000678.2:g.70398260C>T | GRCh38 |
| NC_000016.9:g.70432163C>T , CM000678.1:g.70432163C>T | GRCh37 |
| NC_000016.8:g.68989664C>T | NCBI36 |
| NG_046942.1:g.45829G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006927.4:c.271G>A MANE Select | NP_008858.1:p.Gly91Ser |
| ENST00000342907.3:c.271G>A MANE Select | ENSP00000345477.2:p.Gly91Ser |
| NM_006927.3:c.271G>A | NP_008858.1:p.Gly91Ser |
| ENST00000342907.2:c.271G>A | ENSP00000345477.2:p.Gly91Ser |
| ENST00000393640.8:c.271G>A | ENSP00000377257.4:p.Gly91Ser |