Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174857T>G , CM000674.2:g.21174857T>G | GRCh38 |
| NC_000012.11:g.21327791T>G , CM000674.1:g.21327791T>G | GRCh37 |
| NC_000012.10:g.21219058T>G | NCBI36 |
| NG_011745.1:g.48664T>G , LRG_1022:g.48664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+148T>G MANE Select | ENSP00000256958.2:n.359+148T>G | |
| ENST00000256958.2:c.359+148T>G | ENSP00000256958.2:n.359+148T>G | |
| ENST00000543498.5:c.426-1919T>G | ||
| NM_006446.4:c.359+148T>G , LRG_1022t1:c.359+148T>G | NP_006437.3:n.359+148T>G | |
| NM_006446.5:c.359+148T>G MANE Select | NP_006437.3:n.359+148T>G |