Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102952117G>C , CM000673.2:g.102952117G>C | GRCh38 |
| NC_000011.9:g.102822846G>C , CM000673.1:g.102822846G>C | GRCh37 |
| NC_000011.8:g.102328056G>C | NCBI36 |
| NG_021404.1:g.8618C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002427.4:c.694C>G MANE Select | NP_002418.1:p.His232Asp |
| ENST00000260302.8:c.694C>G MANE Select | ENSP00000260302.3:p.His232Asp |
| NM_002427.3:c.694C>G | NP_002418.1:p.His232Asp |
| ENST00000260302.7:c.694C>G | ENSP00000260302.3:p.His232Asp |
| ENST00000340273.4:c.694C>G | ENSP00000339672.4:p.His232Asp |
| ENST00000615555.4:c.694C>G | ENSP00000482883.1:p.His232Asp |