Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.955304G>A , CM000674.2:g.955304G>A | GRCh38 |
| NC_000012.11:g.1064470G>A , CM000674.1:g.1064470G>A | GRCh37 |
| NC_000012.10:g.934731G>A | NCBI36 |
| NG_017078.2:g.39738C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430095.6:c.-18-22228C>T | ENSP00000387901.2:n.-18-22228C>T | |
| NM_001297419.1:c.-18-22228C>T | NP_001284348.1:n.-18-22228C>T | |
| XM_005253720.3:c.-18-22228C>T | XP_005253777.1:n.-18-22228C>T | |
| XM_005253720.5:c.-18-22228C>T | XP_005253777.1:n.-18-22228C>T | |
| XM_017019769.1:c.-18-22228C>T | XP_016875258.1:n.-18-22228C>T |