Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516518A>G , CM000674.2:g.52516518A>G | GRCh38 |
| NC_000012.11:g.52910302A>G , CM000674.1:g.52910302A>G | GRCh37 |
| NC_000012.10:g.51196569A>G | NCBI36 |
| NG_008297.1:g.8942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+119T>C MANE Select | ENSP00000252242.4:n.1439+119T>C | |
| ENST00000252242.8:c.1439+119T>C | ENSP00000252242.4:n.1439+119T>C | |
| ENST00000548409.5:c.561+119T>C | ||
| ENST00000549511.5:n.646+119T>C | ||
| ENST00000552629.5:n.1656T>C | ||
| NM_000424.3:c.1439+119T>C | NP_000415.2:n.1439+119T>C | |
| NM_000424.4:c.1439+119T>C MANE Select | NP_000415.2:n.1439+119T>C |