Linked Data
dbSNP Id:
rs1005018876
gnomAD v2:
7-37989087-C-A
gnomAD v3:
7-37949485-C-A
gnomAD v4:
7-37949485-C-A
COSMIC:
COSN25481222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.37949485C>A , CM000669.2:g.37949485C>A | GRCh38 |
| NC_000007.13:g.37989087C>A , CM000669.1:g.37989087C>A | GRCh37 |
| NC_000007.12:g.37955612C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199448.9:c.478+437C>A (EPDR1) MANE Select | ENSP00000199448.4:n.478+437C>A | |
| ENST00000199448.8:c.478+437C>A (EPDR1) | ENSP00000199448.4:n.478+437C>A | |
| ENST00000423717.1:c.270-715C>A (EPDR1) | ENSP00000409211.1:n.270-715C>A | |
| ENST00000425345.1:c.295+437C>A (EPDR1) | ENSP00000413359.1:n.295+437C>A | |
| ENST00000447200.2:c.-52-22711G>T (SFRP4) | ENSP00000402262.2:n.-52-22711G>T | |
| ENST00000476620.1:c.172+437C>A (EPDR1) | ENSP00000425858.1:n.172+437C>A | |
| NM_001242946.1:c.270-715C>A (EPDR1) | NP_001229875.2:n.270-715C>A | |
| NM_001242948.1:c.295+437C>A (EPDR1) | NP_001229877.1:n.295+437C>A | |
| NM_017549.4:c.478+437C>A (EPDR1) | NP_060019.2:n.478+437C>A | |
| NM_017549.5:c.478+437C>A (EPDR1) MANE Select | NP_060019.2:n.478+437C>A | |
| NM_001242946.2:c.270-715C>A (EPDR1) | NP_001229875.2:n.270-715C>A | |
| NM_001242948.2:c.295+437C>A (EPDR1) | NP_001229877.1:n.295+437C>A |