Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67135523A>G , CM000663.2:g.67135523A>G | GRCh38 |
| NC_000001.10:g.67601206A>G , CM000663.1:g.67601206A>G | GRCh37 |
| NC_000001.9:g.67373794A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371007.6:c.-103-4296T>C | ENSP00000360046.1:n.-103-4296T>C | |
| ENST00000448166.6:c.-103-4296T>C | ENSP00000415519.2:n.-103-4296T>C | |
| XM_011541466.1:c.-18+6091T>C | XP_011539768.1:n.-18+6091T>C | |
| XM_011541466.2:c.-18+6091T>C | XP_011539768.1:n.-18+6091T>C |