Linked Data
ClinVar Variation Id:
214317
dbSNP Id:
rs138958351
ExAC:
19:44030709 C / T
gnomAD v2:
19-44030709-C-T
gnomAD v3:
19-43526557-C-T
gnomAD v4:
19-43526557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526557C>T , CM000681.2:g.43526557C>T | GRCh38 |
| NC_000019.9:g.44030709C>T , CM000681.1:g.44030709C>T | GRCh37 |
| NC_000019.8:g.48722549C>T | NCBI36 |
| NG_008141.1:g.5688G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.184G>A (ETHE1) MANE Select | ENSP00000292147.1:p.Ala62Thr | |
| ENST00000292147.6:c.184G>A (ETHE1) | ENSP00000292147.1:p.Ala62Thr | |
| ENST00000458714.2:c.66C>T (ZNF575) | ENSP00000413956.2:p.Gly22= | |
| ENST00000594342.5:c.184G>A (ETHE1) | ENSP00000469652.1:p.Ala62Thr | |
| ENST00000595115.1:n.237G>A (ETHE1) | ||
| ENST00000598330.1:c.184G>A (ETHE1) | ENSP00000469219.1:p.Ala62Thr | |
| ENST00000600651.5:c.184G>A (ETHE1) | ENSP00000469037.1:p.Ala62Thr | |
| ENST00000602138.1:c.*188G>A (ETHE1) | ENSP00000468964.1:n.*188G>A | |
| NM_014297.3:c.184G>A (ETHE1) | NP_055112.2:p.Ala62Thr | |
| XM_005258687.2:c.103G>A (ETHE1) | XP_005258744.1:p.Ala35Thr | |
| XM_005258688.2:c.-37G>A (ETHE1) | XP_005258745.1:n.-37G>A | |
| XM_011526685.1:c.184G>A (ETHE1) | XP_011524987.1:p.Ala62Thr | |
| NM_001320867.1:c.184G>A (ETHE1) | NP_001307796.1:p.Ala62Thr | |
| NM_001320868.1:c.-37G>A (ETHE1) | NP_001307797.1:n.-37G>A | |
| NM_001320869.1:c.81+540G>A (ETHE1) | NP_001307798.1:n.81+540G>A | |
| NM_014297.4:c.184G>A (ETHE1) | NP_055112.2:p.Ala62Thr | |
| XM_005258687.4:c.103G>A (ETHE1) | XP_005258744.1:p.Ala35Thr | |
| NM_014297.5:c.184G>A (ETHE1) MANE Select | NP_055112.2:p.Ala62Thr | |
| NM_001320867.2:c.184G>A (ETHE1) | NP_001307796.1:p.Ala62Thr | |
| NM_001320868.2:c.-37G>A (ETHE1) | NP_001307797.1:n.-37G>A | |
| NM_001320869.2:c.81+540G>A (ETHE1) | NP_001307798.1:n.81+540G>A |