Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50189876T= , CM000681.2:g.50189876T= | GRCh38 |
| NC_000019.9:g.50693133T= , CM000681.1:g.50693133T= | GRCh37 |
| NC_000019.8:g.55384945T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000598205.5:c.-4+1569T= | ENSP00000472543.1:n.-4+1569T= |
| XM_011527320.1:c.117+1569T= | XP_011525622.1:n.117+1569T= |
| XM_011527320.2:c.117+1569T= | XP_011525622.1:n.117+1569T= |
| XM_011527321.1:c.117+1569T= | XP_011525623.1:n.117+1569T= |
| XM_011527321.2:c.117+1569T= | XP_011525623.1:n.117+1569T= |
| XM_011527322.1:c.117+1569T= | XP_011525624.1:n.117+1569T= |