Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771774G>A , CM000672.2:g.52771774G>A | GRCh38 |
| NC_000010.10:g.54531534G>A , CM000672.1:g.54531534G>A | GRCh37 |
| NC_000010.9:g.54201540G>A | NCBI36 |
| NG_008196.1:g.4927C>T , LRG_154:g.4927C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378373.1:c.-9-130C>T MANE Select | NP_001365302.1:n.-9-130C>T |
| ENST00000674931.1:c.-9-130C>T MANE Select | ENSP00000502789.1:n.-9-130C>T |
| NM_001378374.1:c.-24-115C>T | NP_001365303.1:n.-24-115C>T |
| ENST00000675947.1:c.-24-115C>T | ENSP00000502615.1:n.-24-115C>T |
| XM_006717861.2:c.-24-115C>T | XP_006717924.1:n.-24-115C>T |
| XM_006717861.4:c.-24-115C>T | XP_006717924.1:n.-24-115C>T |
| XM_011539816.1:c.-9-130C>T | XP_011538118.1:n.-9-130C>T |
| XM_011539816.3:c.-9-130C>T | XP_011538118.1:n.-9-130C>T |