Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12100264T>C , CM000672.2:g.12100264T>C | GRCh38 |
| NC_000010.10:g.12142263T>C , CM000672.1:g.12142263T>C | GRCh37 |
| NC_000010.9:g.12182269T>C | NCBI36 |
| NG_033248.1:g.36348T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1756+2T>C MANE Select | NP_061176.4:n.1756+2T>C |
| ENST00000263035.9:c.1756+2T>C MANE Select | ENSP00000263035.4:n.1756+2T>C |
| NM_018706.6:c.1756+2T>C | NP_061176.3:n.1756+2T>C |
| ENST00000263035.8:c.1756+2T>C | ENSP00000263035.4:n.1756+2T>C |
| ENST00000448829.1:c.410+2T>C |