Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2429481G>C , CM000678.2:g.2429481G>C | GRCh38 |
| NC_000016.9:g.2479482G>C , CM000678.1:g.2479482G>C | GRCh37 |
| NC_000016.8:g.2419483G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001761.3:c.-1G>C MANE Select | NP_001752.2:n.-1G>C |
| ENST00000397066.9:c.-1G>C MANE Select | ENSP00000380256.4:n.-1G>C |
| NM_001323538.1:c.-818G>C | NP_001310467.1:n.-818G>C |
| NM_001323538.2:c.-818G>C | NP_001310467.1:n.-818G>C |
| NM_001761.2:c.-1G>C | NP_001752.2:n.-1G>C |
| ENST00000293968.11:c.-1G>C | ENSP00000293968.7:n.-1G>C |
| ENST00000397066.8:c.-1G>C | ENSP00000380256.4:n.-1G>C |
| ENST00000569093.1:n.33G>C |