Linked Data
gnomAD v4:
1-229432352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432352C>A , CM000663.2:g.229432352C>A | GRCh38 |
| NC_000001.10:g.229568099C>A , CM000663.1:g.229568099C>A | GRCh37 |
| NC_000001.9:g.227634722C>A | NCBI36 |
| NG_006672.1:g.6745G>T , LRG_429:g.6745G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.534G>T | ENSP00000355644.4:p.Met178Ile | |
| ENST00000684723.1:c.399G>T | ENSP00000508084.1:p.Met133Ile | |
| ENST00000366683.3:c.479+55G>T | ENSP00000355644.3:n.479+55G>T | |
| ENST00000366684.7:c.534G>T MANE Select | ENSP00000355645.3:p.Met178Ile | |
| NM_001100.3:c.534G>T , LRG_429t1:c.534G>T | NP_001091.1:p.Met178Ile | |
| NM_001100.4:c.534G>T MANE Select | NP_001091.1:p.Met178Ile |