Linked Data
dbSNP Id:
rs1423062084
gnomAD v2:
1-229567139-C-T
gnomAD v3:
1-229431392-C-T
gnomAD v4:
1-229431392-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431392C>T , CM000663.2:g.229431392C>T | GRCh38 |
| NC_000001.10:g.229567139C>T , CM000663.1:g.229567139C>T | GRCh37 |
| NC_000001.9:g.227633762C>T | NCBI36 |
| NG_006672.1:g.7705G>A , LRG_429:g.7705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*107G>A | ENSP00000355644.4:n.*107G>A | |
| ENST00000684723.1:c.*107G>A | ENSP00000508084.1:n.*107G>A | |
| ENST00000366683.3:c.*107G>A | ENSP00000355644.3:n.*107G>A | |
| ENST00000366684.7:c.*107G>A MANE Select | ENSP00000355645.3:n.*107G>A | |
| NM_001100.3:c.*107G>A , LRG_429t1:c.*107G>A | NP_001091.1:n.*107G>A | |
| NM_001100.4:c.*107G>A MANE Select | NP_001091.1:n.*107G>A |