Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444747A>C , CM000673.2:g.2444747A>C | GRCh38 |
| NC_000011.9:g.2465977A>C , CM000673.1:g.2465977A>C | GRCh37 |
| NC_000011.8:g.2422553A>C | NCBI36 |
| NG_008935.1:g.4757A>C , LRG_287:g.4757A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+39A>C | ENSP00000434560.2:n.23+39A>C | |
| ENST00000496887.6:c.23+39A>C | ENSP00000434560.1:n.23+39A>C |