Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444931C>T , CM000673.2:g.2444931C>T | GRCh38 |
| NC_000011.9:g.2466161C>T , CM000673.1:g.2466161C>T | GRCh37 |
| NC_000011.8:g.2422737C>T | NCBI36 |
| NG_008935.1:g.4941C>T , LRG_287:g.4941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+223C>T | ENSP00000434560.2:n.23+223C>T | |
| ENST00000496887.6:c.23+223C>T | ENSP00000434560.1:n.23+223C>T |