Linked Data
dbSNP Id:
rs11102001
ExAC:
1:110299691 G / A
gnomAD v2:
1-110299691-G-A
gnomAD v3:
1-109757069-G-A
gnomAD v4:
1-109757069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109757069G>A , CM000663.2:g.109757069G>A | GRCh38 |
| NC_000001.10:g.110299691G>A , CM000663.1:g.110299691G>A | GRCh37 |
| NC_000001.9:g.110101214G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361965.9:c.1066C>T (EPS8L3) MANE Select | ENSP00000355255.4:p.Pro356Ser | |
| ENST00000361852.8:c.1066C>T (EPS8L3) | ENSP00000354551.4:p.Pro356Ser | |
| ENST00000361965.8:c.1066C>T (EPS8L3) | ENSP00000355255.4:p.Pro356Ser | |
| ENST00000369805.7:c.1069C>T (EPS8L3) | ENSP00000358820.3:p.Pro357Ser | |
| ENST00000429410.2:n.83-18003G>A (GSTM5) | ||
| ENST00000472325.5:c.*1035C>T (EPS8L3) | ENSP00000483789.1:n.*1035C>T | |
| NM_024526.3:c.1066C>T (EPS8L3) | NP_078802.2:p.Pro356Ser | |
| NM_133181.3:c.1066C>T (EPS8L3) | NP_573444.2:p.Pro356Ser | |
| NM_139053.2:c.1069C>T (EPS8L3) | NP_620641.1:p.Pro357Ser | |
| XM_011542127.1:c.1336C>T (EPS8L3) | XP_011540429.1:p.Pro446Ser | |
| XM_011542128.1:c.1333C>T (EPS8L3) | XP_011540430.1:p.Pro445Ser | |
| XM_011542129.1:c.1312C>T (EPS8L3) | XP_011540431.1:p.Pro438Ser | |
| XM_011542130.1:c.1336C>T (EPS8L3) | XP_011540432.1:p.Pro446Ser | |
| XM_011542131.1:c.1336C>T (EPS8L3) | XP_011540433.1:p.Pro446Ser | |
| XM_011542132.1:c.1093C>T (EPS8L3) | XP_011540434.1:p.Pro365Ser | |
| XM_011542133.1:c.1090C>T (EPS8L3) | XP_011540435.1:p.Pro364Ser | |
| XM_011542134.1:c.991C>T (EPS8L3) | XP_011540436.1:p.Pro331Ser | |
| XM_011542135.1:c.991C>T (EPS8L3) | XP_011540437.1:p.Pro331Ser | |
| XM_011542136.1:c.967C>T (EPS8L3) | XP_011540438.1:p.Pro323Ser | |
| XR_946755.1:n.1514C>T (EPS8L3) | ||
| XR_946756.1:n.1515C>T (EPS8L3) | ||
| NM_001319952.1:c.967C>T (EPS8L3) | NP_001306881.1:p.Pro323Ser | |
| XM_011542132.2:c.1093C>T (EPS8L3) | XP_011540434.1:p.Pro365Ser | |
| XM_011542133.2:c.1090C>T (EPS8L3) | XP_011540435.1:p.Pro364Ser | |
| XM_011542134.3:c.991C>T (EPS8L3) | XP_011540436.1:p.Pro331Ser | |
| XM_011542135.3:c.991C>T (EPS8L3) | XP_011540437.1:p.Pro331Ser | |
| XM_017002327.2:c.1093C>T (EPS8L3) | XP_016857816.1:p.Pro365Ser | |
| XM_017002328.2:c.1093C>T (EPS8L3) | XP_016857817.1:p.Pro365Ser | |
| XM_017002329.2:c.1069C>T (EPS8L3) | XP_016857818.1:p.Pro357Ser | |
| XR_001737406.2:n.1242C>T (EPS8L3) | ||
| XR_001737407.2:n.1242C>T (EPS8L3) | ||
| NM_001319952.2:c.967C>T (EPS8L3) | NP_001306881.1:p.Pro323Ser | |
| NM_024526.4:c.1066C>T (EPS8L3) | NP_078802.2:p.Pro356Ser | |
| NM_133181.4:c.1066C>T (EPS8L3) MANE Select | NP_573444.2:p.Pro356Ser | |
| NM_139053.3:c.1069C>T (EPS8L3) | NP_620641.1:p.Pro357Ser |