Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29397652A>T , CM000684.2:g.29397652A>T | GRCh38 |
| NC_000022.10:g.29793641A>T , CM000684.1:g.29793641A>T | GRCh37 |
| NC_000022.9:g.28123641A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001393612.1:c.-1210-9151A>T (RFPL1) | NP_001380541.1:n.-1210-9151A>T |
| ENST00000415447.5:c.143+21503T>A (AP1B1) | ENSP00000387612.1:n.143+21503T>A |
| ENST00000650462.1:n.189-9151A>T | |
| XR_938142.1:n.528-9151A>T | |
| XR_938146.1:n.1656-9151A>T | |
| XR_938148.1:n.528-9151A>T | |
| XR_938152.1:n.347+1129T>A |