Linked Data
ClinVar Variation Id:
504495
ClinVar RCV Id:
RCV000598580
dbSNP Id:
rs368778231
ExAC:
19:44030706 G / A
gnomAD v2:
19-44030706-G-A
gnomAD v3:
19-43526554-G-A
gnomAD v4:
19-43526554-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526554G>A , CM000681.2:g.43526554G>A | GRCh38 |
| NC_000019.9:g.44030706G>A , CM000681.1:g.44030706G>A | GRCh37 |
| NC_000019.8:g.48722546G>A | NCBI36 |
| NG_008141.1:g.5691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.187C>T (ETHE1) MANE Select | ENSP00000292147.1:p.Gln63Ter | |
| ENST00000292147.6:c.187C>T (ETHE1) | ENSP00000292147.1:p.Gln63Ter | |
| ENST00000458714.2:c.63G>A (ZNF575) | ENSP00000413956.2:p.Leu21= | |
| ENST00000594342.5:c.187C>T (ETHE1) | ENSP00000469652.1:p.Gln63Ter | |
| ENST00000595115.1:n.240C>T (ETHE1) | ||
| ENST00000598330.1:c.187C>T (ETHE1) | ENSP00000469219.1:p.Gln63Ter | |
| ENST00000600651.5:c.187C>T (ETHE1) | ENSP00000469037.1:p.Gln63Ter | |
| ENST00000602138.1:c.*191C>T (ETHE1) | ENSP00000468964.1:n.*191C>T | |
| NM_014297.3:c.187C>T (ETHE1) | NP_055112.2:p.Gln63Ter | |
| XM_005258687.2:c.106C>T (ETHE1) | XP_005258744.1:p.Gln36Ter | |
| XM_005258688.2:c.-34C>T (ETHE1) | XP_005258745.1:n.-34C>T | |
| XM_011526685.1:c.187C>T (ETHE1) | XP_011524987.1:p.Gln63Ter | |
| NM_001320867.1:c.187C>T (ETHE1) | NP_001307796.1:p.Gln63Ter | |
| NM_001320868.1:c.-34C>T (ETHE1) | NP_001307797.1:n.-34C>T | |
| NM_001320869.1:c.81+543C>T (ETHE1) | NP_001307798.1:n.81+543C>T | |
| NM_014297.4:c.187C>T (ETHE1) | NP_055112.2:p.Gln63Ter | |
| XM_005258687.4:c.106C>T (ETHE1) | XP_005258744.1:p.Gln36Ter | |
| NM_014297.5:c.187C>T (ETHE1) MANE Select | NP_055112.2:p.Gln63Ter | |
| NM_001320867.2:c.187C>T (ETHE1) | NP_001307796.1:p.Gln63Ter | |
| NM_001320868.2:c.-34C>T (ETHE1) | NP_001307797.1:n.-34C>T | |
| NM_001320869.2:c.81+543C>T (ETHE1) | NP_001307798.1:n.81+543C>T |