Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7700527C>G , CM000686.2:g.7700527C>G | GRCh38 |
| NC_000024.9:g.7568568C>G , CM000686.1:g.7568568C>G | GRCh37 |
| NC_000024.8:g.7628568C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.753+660G>C (RFTN1P1) | ||
| NR_001552.1:n.61+660G>C (TTTY16) |