Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122454932G>C , CM000672.2:g.122454932G>C | GRCh38 |
| NC_000010.10:g.124214448G>C , CM000672.1:g.124214448G>C | GRCh37 |
| NC_000010.9:g.124204438G>C | NCBI36 |
| NG_011725.1:g.5270G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001099667.3:c.205G>C MANE Select | NP_001093137.1:p.Ala69Pro |
| ENST00000528446.1:c.205G>C MANE Select | ENSP00000436682.1:p.Ala69Pro |
| NM_001099667.1:c.205G>C | NP_001093137.1:p.Ala69Pro |
| NM_001099667.2:c.205G>C | NP_001093137.1:p.Ala69Pro |
| XR_946382.1:n.1827+3563C>G | |
| XR_946382.2:n.1855+3563C>G | |
| XR_946383.1:n.1827+3563C>G | |
| XR_946383.2:n.1855+3563C>G | |
| XR_946384.1:n.1576+3563C>G | |
| XR_946384.2:n.1580+3563C>G |