Linked Data
ClinVar Variation Id:
488509
ClinVar RCV Id:
RCV000578329
dbSNP Id:
rs769259233
ExAC:
19:44030348 C / T
gnomAD v2:
19-44030348-C-T
gnomAD v4:
19-43526196-C-T
PubMed:
PMID:28933811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43526196C>T , CM000681.2:g.43526196C>T | GRCh38 |
| NC_000019.9:g.44030348C>T , CM000681.1:g.44030348C>T | GRCh37 |
| NC_000019.8:g.48722188C>T | NCBI36 |
| NG_008141.1:g.6049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.375+5G>A (ETHE1) MANE Select | ENSP00000292147.1:n.375+5G>A | |
| ENST00000292147.6:c.375+5G>A (ETHE1) | ENSP00000292147.1:n.375+5G>A | |
| ENST00000458714.2:c.-108C>T (ZNF575) | ENSP00000413956.2:n.-108C>T | |
| ENST00000594342.5:c.226+319G>A (ETHE1) | ENSP00000469652.1:n.226+319G>A | |
| ENST00000598330.1:c.226+319G>A (ETHE1) | ENSP00000469219.1:n.226+319G>A | |
| ENST00000600651.5:c.375+5G>A (ETHE1) | ENSP00000469037.1:n.375+5G>A | |
| ENST00000602138.1:c.*379+5G>A (ETHE1) | ENSP00000468964.1:n.*379+5G>A | |
| NM_014297.3:c.375+5G>A (ETHE1) | NP_055112.2:n.375+5G>A | |
| XM_005258687.2:c.294+5G>A (ETHE1) | XP_005258744.1:n.294+5G>A | |
| XM_005258688.2:c.6+319G>A (ETHE1) | XP_005258745.1:n.6+319G>A | |
| XM_011526685.1:c.226+319G>A (ETHE1) | XP_011524987.1:n.226+319G>A | |
| NM_001320867.1:c.342+5G>A (ETHE1) | NP_001307796.1:n.342+5G>A | |
| NM_001320868.1:c.6+319G>A (ETHE1) | NP_001307797.1:n.6+319G>A | |
| NM_001320869.1:c.81+901G>A (ETHE1) | NP_001307798.1:n.81+901G>A | |
| NM_014297.4:c.375+5G>A (ETHE1) | NP_055112.2:n.375+5G>A | |
| XM_005258687.4:c.294+5G>A (ETHE1) | XP_005258744.1:n.294+5G>A | |
| NM_014297.5:c.375+5G>A (ETHE1) MANE Select | NP_055112.2:n.375+5G>A | |
| NM_001320867.2:c.342+5G>A (ETHE1) | NP_001307796.1:n.342+5G>A | |
| NM_001320868.2:c.6+319G>A (ETHE1) | NP_001307797.1:n.6+319G>A | |
| NM_001320869.2:c.81+901G>A (ETHE1) | NP_001307798.1:n.81+901G>A |