Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924531G>C , CM000675.2:g.27924531G>C | GRCh38 |
| NC_000013.10:g.28498668G>C , CM000675.1:g.28498668G>C | GRCh37 |
| NC_000013.9:g.27396668G>C | NCBI36 |
| NG_008183.1:g.9501G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.682G>C MANE Select | ENSP00000370421.4:p.Ala228Pro | |
| ENST00000381033.4:c.682G>C | ENSP00000370421.4:p.Ala228Pro | |
| NM_000209.3:c.682G>C | NP_000200.1:p.Ala228Pro | |
| NM_000209.4:c.682G>C MANE Select | NP_000200.1:p.Ala228Pro |