Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444948G>C , CM000673.2:g.2444948G>C | GRCh38 |
| NC_000011.9:g.2466178G>C , CM000673.1:g.2466178G>C | GRCh37 |
| NC_000011.8:g.2422754G>C | NCBI36 |
| NG_008935.1:g.4958G>C , LRG_287:g.4958G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+240G>C | ENSP00000434560.2:n.23+240G>C | |
| ENST00000496887.6:c.23+240G>C | ENSP00000434560.1:n.23+240G>C |