Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33118671G>C , CM000668.2:g.33118671G>C | GRCh38 |
| NC_000006.11:g.33086448G>C , CM000668.1:g.33086448G>C | GRCh37 |
| NC_000006.10:g.33194426G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001435.1:n.364+1451G>C | |
| NR_001435.2:n.364+1451G>C | |
| ENST00000435074.5:n.710G>C | |
| ENST00000435074.6:n.721G>C | |
| ENST00000470997.1:n.364+1451G>C | |
| ENST00000684891.1:n.608G>C | |
| ENST00000686632.1:n.614G>C | |
| ENST00000692641.1:n.617G>C | |
| ENST00000692715.1:n.739G>C |