Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23632100C>G , CM000682.2:g.23632100C>G | GRCh38 |
| NC_000020.10:g.23612737C>G , CM000682.1:g.23612737C>G | GRCh37 |
| NC_000020.9:g.23560737C>G | NCBI36 |
| NG_012887.2:g.10838G>C | |
| NG_012887.3:g.10838G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001288614.1:c.*2+1814G>C | NP_001275543.1:n.*2+1814G>C |
| NM_001288614.2:c.*2+1814G>C | NP_001275543.1:n.*2+1814G>C |
| ENST00000398411.5:c.*2+1814G>C | ENSP00000381448.1:n.*2+1814G>C |