Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43527224G>A , CM000681.2:g.43527224G>A | GRCh38 |
| NC_000019.9:g.44031376G>A , CM000681.1:g.44031376G>A | GRCh37 |
| NC_000019.8:g.48723216G>A | NCBI36 |
| NG_008141.1:g.5021C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001320867.1:c.-47C>T (ETHE1) | NP_001307796.1:n.-47C>T |
| NM_001320868.1:c.-267C>T (ETHE1) | NP_001307797.1:n.-267C>T |
| NM_001320869.1:c.-47C>T (ETHE1) | NP_001307798.1:n.-47C>T |
| NM_014297.3:c.-47C>T (ETHE1) | NP_055112.2:n.-47C>T |
| NM_014297.4:c.-47C>T (ETHE1) | NP_055112.2:n.-47C>T |
| ENST00000292147.6:c.-47C>T (ETHE1) | ENSP00000292147.1:n.-47C>T |
| ENST00000458714.2:c.135+598G>A (ZNF575) | ENSP00000413956.2:n.135+598G>A |
| ENST00000595115.1:n.7C>T (ETHE1) | |
| XM_011526685.1:c.-47C>T (ETHE1) | XP_011524987.1:n.-47C>T |