Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7097174C>T , CM000686.2:g.7097174C>T | GRCh38 |
| NC_000024.9:g.6965215C>T , CM000686.1:g.6965215C>T | GRCh37 |
| NC_000024.8:g.7025215C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651523.1:c.306-3611C>T | ||
| XM_017030086.1:c.1549-3611C>T | XP_016885575.1:n.1549-3611C>T | |
| XM_017030087.1:c.1549-3611C>T | XP_016885576.1:n.1549-3611C>T | |
| XM_024452497.1:c.1549-3611C>T | XP_024308265.1:n.1549-3611C>T |