Linked Data
gnomAD v4:
1-229432311-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432311A>T , CM000663.2:g.229432311A>T | GRCh38 |
| NC_000001.10:g.229568058A>T , CM000663.1:g.229568058A>T | GRCh37 |
| NC_000001.9:g.227634681A>T | NCBI36 |
| NG_006672.1:g.6786T>A , LRG_429:g.6786T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.575T>A | ENSP00000355644.4:p.Met192Lys | |
| ENST00000684723.1:c.440T>A | ENSP00000508084.1:p.Met147Lys | |
| ENST00000366683.3:c.479+96T>A | ENSP00000355644.3:n.479+96T>A | |
| ENST00000366684.7:c.575T>A MANE Select | ENSP00000355645.3:p.Met192Lys | |
| NM_001100.3:c.575T>A , LRG_429t1:c.575T>A | NP_001091.1:p.Met192Lys | |
| NM_001100.4:c.575T>A MANE Select | NP_001091.1:p.Met192Lys |