Linked Data
ClinVar Variation Id:
329442
dbSNP Id:
rs770508697
ExAC:
19:44030357 C / A
gnomAD v2:
19-44030357-C-A
gnomAD v3:
19-43526205-C-A
gnomAD v4:
19-43526205-C-A
ERepo:
CA9487892/MONDO:0011229/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526205C>A , CM000681.2:g.43526205C>A | GRCh38 |
| NC_000019.9:g.44030357C>A , CM000681.1:g.44030357C>A | GRCh37 |
| NC_000019.8:g.48722197C>A | NCBI36 |
| NG_008141.1:g.6040G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.371G>T (ETHE1) MANE Select | ENSP00000292147.1:p.Arg124Leu | |
| ENST00000292147.6:c.371G>T (ETHE1) | ENSP00000292147.1:p.Arg124Leu | |
| ENST00000458714.2:c.-99C>A (ZNF575) | ENSP00000413956.2:n.-99C>A | |
| ENST00000594342.5:c.226+310G>T (ETHE1) | ENSP00000469652.1:n.226+310G>T | |
| ENST00000595115.1:n.589G>T (ETHE1) | ||
| ENST00000598330.1:c.226+310G>T (ETHE1) | ENSP00000469219.1:n.226+310G>T | |
| ENST00000600651.5:c.371G>T (ETHE1) | ENSP00000469037.1:p.Arg124Leu | |
| ENST00000602138.1:c.*375G>T (ETHE1) | ENSP00000468964.1:n.*375G>T | |
| NM_014297.3:c.371G>T (ETHE1) | NP_055112.2:p.Arg124Leu | |
| XM_005258687.2:c.290G>T (ETHE1) | XP_005258744.1:p.Arg97Leu | |
| XM_005258688.2:c.6+310G>T (ETHE1) | XP_005258745.1:n.6+310G>T | |
| XM_011526685.1:c.226+310G>T (ETHE1) | XP_011524987.1:n.226+310G>T | |
| NM_001320867.1:c.338G>T (ETHE1) | NP_001307796.1:p.Arg113Leu | |
| NM_001320868.1:c.6+310G>T (ETHE1) | NP_001307797.1:n.6+310G>T | |
| NM_001320869.1:c.81+892G>T (ETHE1) | NP_001307798.1:n.81+892G>T | |
| NM_014297.4:c.371G>T (ETHE1) | NP_055112.2:p.Arg124Leu | |
| XM_005258687.4:c.290G>T (ETHE1) | XP_005258744.1:p.Arg97Leu | |
| NM_014297.5:c.371G>T (ETHE1) MANE Select | NP_055112.2:p.Arg124Leu | |
| NM_001320867.2:c.338G>T (ETHE1) | NP_001307796.1:p.Arg113Leu | |
| NM_001320868.2:c.6+310G>T (ETHE1) | NP_001307797.1:n.6+310G>T | |
| NM_001320869.2:c.81+892G>T (ETHE1) | NP_001307798.1:n.81+892G>T |