Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43527229C>G , CM000681.2:g.43527229C>G | GRCh38 |
| NC_000019.9:g.44031381C>G , CM000681.1:g.44031381C>G | GRCh37 |
| NC_000019.8:g.48723221C>G | NCBI36 |
| NG_008141.1:g.5016G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001320867.1:c.-52G>C (ETHE1) | NP_001307796.1:n.-52G>C |
| NM_001320868.1:c.-272G>C (ETHE1) | NP_001307797.1:n.-272G>C |
| NM_001320869.1:c.-52G>C (ETHE1) | NP_001307798.1:n.-52G>C |
| NM_014297.3:c.-52G>C (ETHE1) | NP_055112.2:n.-52G>C |
| NM_014297.4:c.-52G>C (ETHE1) | NP_055112.2:n.-52G>C |
| ENST00000292147.6:c.-52G>C (ETHE1) | ENSP00000292147.1:n.-52G>C |
| ENST00000458714.2:c.135+603C>G (ZNF575) | ENSP00000413956.2:n.135+603C>G |
| ENST00000595115.1:n.2G>C (ETHE1) | |
| XM_011526685.1:c.-52G>C (ETHE1) | XP_011524987.1:n.-52G>C |