Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37916377G>T , CM000669.2:g.37916377G>T | GRCh38 |
| NC_000007.13:g.37955979G>T , CM000669.1:g.37955979G>T | GRCh37 |
| NC_000007.12:g.37922504G>T | NCBI36 |
| NG_052980.1:g.5547C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003014.4:c.161C>A (SFRP4) MANE Select | NP_003005.2:p.Ala54Asp |
| ENST00000436072.7:c.161C>A (SFRP4) MANE Select | ENSP00000410715.2:p.Ala54Asp |
| NM_003014.3:c.161C>A (SFRP4) | NP_003005.2:p.Ala54Asp |
| ENST00000436072.6:c.161C>A (SFRP4) | ENSP00000410715.2:p.Ala54Asp |
| ENST00000447200.2:c.44-1924C>A (SFRP4) | ENSP00000402262.2:n.44-1924C>A |
| ENST00000476620.1:c.-37-32463G>T (EPDR1) | ENSP00000425858.1:n.-37-32463G>T |