Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15575249G>C , CM000672.2:g.15575249G>C | GRCh38 |
| NC_000010.10:g.15617248G>C , CM000672.1:g.15617248G>C | GRCh37 |
| NC_000010.9:g.15657254G>C | NCBI36 |
| NG_034116.1:g.150087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378076.4:c.2478+240C>G MANE Select | ENSP00000367316.3:n.2478+240C>G | |
| ENST00000378076.3:c.2478+240C>G | ENSP00000367316.3:n.2478+240C>G | |
| NM_001291494.1:c.2433+240C>G | NP_001278423.1:n.2433+240C>G | |
| NM_003638.2:c.2478+240C>G | NP_003629.2:n.2478+240C>G | |
| NM_003638.3:c.2478+240C>G MANE Select | NP_003629.2:n.2478+240C>G | |
| NM_001291494.2:c.2433+240C>G | NP_001278423.1:n.2433+240C>G |