Linked Data
ClinVar Variation Id:
1687641
ClinVar RCV Id:
RCV002251615
dbSNP Id:
rs745576162
ExAC:
19:44030501 A / G
gnomAD v2:
19-44030501-A-G
gnomAD v3:
19-43526349-A-G
gnomAD v4:
19-43526349-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526349A>G , CM000681.2:g.43526349A>G | GRCh38 |
| NC_000019.9:g.44030501A>G , CM000681.1:g.44030501A>G | GRCh37 |
| NC_000019.8:g.48722341A>G | NCBI36 |
| NG_008141.1:g.5896T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.227T>C (ETHE1) MANE Select | ENSP00000292147.1:p.Val76Ala | |
| ENST00000292147.6:c.227T>C (ETHE1) | ENSP00000292147.1:p.Val76Ala | |
| ENST00000458714.2:c.-65-78A>G (ZNF575) | ENSP00000413956.2:n.-65-78A>G | |
| ENST00000594342.5:c.226+166T>C (ETHE1) | ENSP00000469652.1:n.226+166T>C | |
| ENST00000595115.1:n.445T>C (ETHE1) | ||
| ENST00000598330.1:c.226+166T>C (ETHE1) | ENSP00000469219.1:n.226+166T>C | |
| ENST00000600651.5:c.227T>C (ETHE1) | ENSP00000469037.1:p.Val76Ala | |
| ENST00000602138.1:c.*231T>C (ETHE1) | ENSP00000468964.1:n.*231T>C | |
| NM_014297.3:c.227T>C (ETHE1) | NP_055112.2:p.Val76Ala | |
| XM_005258687.2:c.146T>C (ETHE1) | XP_005258744.1:p.Val49Ala | |
| XM_005258688.2:c.6+166T>C (ETHE1) | XP_005258745.1:n.6+166T>C | |
| XM_011526685.1:c.226+166T>C (ETHE1) | XP_011524987.1:n.226+166T>C | |
| NM_001320867.1:c.227-33T>C (ETHE1) | NP_001307796.1:n.227-33T>C | |
| NM_001320868.1:c.6+166T>C (ETHE1) | NP_001307797.1:n.6+166T>C | |
| NM_001320869.1:c.81+748T>C (ETHE1) | NP_001307798.1:n.81+748T>C | |
| NM_014297.4:c.227T>C (ETHE1) | NP_055112.2:p.Val76Ala | |
| XM_005258687.4:c.146T>C (ETHE1) | XP_005258744.1:p.Val49Ala | |
| NM_014297.5:c.227T>C (ETHE1) MANE Select | NP_055112.2:p.Val76Ala | |
| NM_001320867.2:c.227-33T>C (ETHE1) | NP_001307796.1:n.227-33T>C | |
| NM_001320868.2:c.6+166T>C (ETHE1) | NP_001307797.1:n.6+166T>C | |
| NM_001320869.2:c.81+748T>C (ETHE1) | NP_001307798.1:n.81+748T>C |