Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52772131T>G , CM000672.2:g.52772131T>G | GRCh38 |
| NC_000010.10:g.54531891T>G , CM000672.1:g.54531891T>G | GRCh37 |
| NC_000010.9:g.54201897T>G | NCBI36 |
| NG_008196.1:g.4570A>C , LRG_154:g.4570A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378373.1:c.-9-487A>C MANE Select | NP_001365302.1:n.-9-487A>C |
| ENST00000674931.1:c.-9-487A>C MANE Select | ENSP00000502789.1:n.-9-487A>C |
| NM_001378374.1:c.-24-472A>C | NP_001365303.1:n.-24-472A>C |
| ENST00000675947.1:c.-24-472A>C | ENSP00000502615.1:n.-24-472A>C |
| XM_006717861.2:c.-24-472A>C | XP_006717924.1:n.-24-472A>C |
| XM_006717861.4:c.-24-472A>C | XP_006717924.1:n.-24-472A>C |
| XM_011539816.1:c.-9-487A>C | XP_011538118.1:n.-9-487A>C |
| XM_011539816.3:c.-9-487A>C | XP_011538118.1:n.-9-487A>C |