Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668308C>G , CM000679.2:g.7668308C>G | GRCh38 |
| NC_000017.10:g.7571626C>G , CM000679.1:g.7571626C>G | GRCh37 |
| NC_000017.9:g.7512351C>G | NCBI36 |
| NG_017013.2:g.24243G>C , LRG_321:g.24243G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359597.8:c.994-2064G>C | ENSP00000352610.4:n.994-2064G>C | |
| ENST00000413465.6:c.782+5873G>C | ENSP00000410739.2:n.782+5873G>C | |
| ENST00000635293.1:c.984-883G>C | ENSP00000488924.1:n.984-883G>C |