Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733414T>G , CM000684.2:g.37733414T>G | GRCh38 |
| NC_000022.10:g.38129421T>G , CM000684.1:g.38129421T>G | GRCh37 |
| NC_000022.9:g.36459367T>G | NCBI36 |
| NG_012857.1:g.41427T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039141.3:c.4062+2T>G MANE Select | NP_001034230.1:n.4062+2T>G |
| ENST00000644935.1:c.4062+2T>G MANE Select | ENSP00000496394.1:n.4062+2T>G |
| NM_001039141.2:c.4062+2T>G | NP_001034230.1:n.4062+2T>G |
| ENST00000344404.10:c.*3545+2T>G | ENSP00000340312.6:n.*3545+2T>G |
| ENST00000406386.7:c.4062+2T>G | ENSP00000384312.3:n.4062+2T>G |
| XM_011530646.1:c.512-3055A>C | XP_011528948.1:n.512-3055A>C |