Linked Data
gnomAD v4:
1-229431469-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431469G>T , CM000663.2:g.229431469G>T | GRCh38 |
| NC_000001.10:g.229567216G>T , CM000663.1:g.229567216G>T | GRCh37 |
| NC_000001.9:g.227633839G>T | NCBI36 |
| NG_006672.1:g.7628C>A , LRG_429:g.7628C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*30C>A | ENSP00000355644.4:n.*30C>A | |
| ENST00000684723.1:c.*30C>A | ENSP00000508084.1:n.*30C>A | |
| ENST00000366683.3:c.*30C>A | ENSP00000355644.3:n.*30C>A | |
| ENST00000366684.7:c.*30C>A MANE Select | ENSP00000355645.3:n.*30C>A | |
| NM_001100.3:c.*30C>A , LRG_429t1:c.*30C>A | NP_001091.1:n.*30C>A | |
| NM_001100.4:c.*30C>A MANE Select | NP_001091.1:n.*30C>A |