gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37921233G>T , CM000669.2:g.37921233G>T | GRCh38 |
| NC_000007.13:g.37960835G>T , CM000669.1:g.37960835G>T | GRCh37 |
| NC_000007.12:g.37927360G>T | NCBI36 |
| NG_052980.1:g.691C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199448.9:c.269+25G>T (EPDR1) MANE Select | ENSP00000199448.4:n.269+25G>T | |
| ENST00000199448.8:c.269+25G>T (EPDR1) | ENSP00000199448.4:n.269+25G>T | |
| ENST00000423717.1:c.269+25G>T (EPDR1) | ENSP00000409211.1:n.269+25G>T | |
| ENST00000447200.2:c.43+5447C>A (SFRP4) | ENSP00000402262.2:n.43+5447C>A | |
| ENST00000476620.1:c.-37-27607G>T (EPDR1) | ENSP00000425858.1:n.-37-27607G>T | |
| NM_001242946.1:c.269+25G>T (EPDR1) | NP_001229875.2:n.269+25G>T | |
| NM_017549.4:c.269+25G>T (EPDR1) | NP_060019.2:n.269+25G>T | |
| NM_017549.5:c.269+25G>T (EPDR1) MANE Select | NP_060019.2:n.269+25G>T | |
| NM_001242946.2:c.269+25G>T (EPDR1) | NP_001229875.2:n.269+25G>T |