Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431629G>T , CM000663.2:g.229431629G>T | GRCh38 |
| NC_000001.10:g.229567376G>T , CM000663.1:g.229567376G>T | GRCh37 |
| NC_000001.9:g.227633999G>T | NCBI36 |
| NG_006672.1:g.7468C>A , LRG_429:g.7468C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.991-65C>A | ENSP00000355644.4:n.991-65C>A | |
| ENST00000684723.1:c.869C>A | ENSP00000508084.1:p.Pro290Gln | |
| ENST00000366683.3:c.635C>A | ENSP00000355644.3:p.Pro212Gln | |
| ENST00000366684.7:c.1004C>A MANE Select | ENSP00000355645.3:p.Pro335Gln | |
| NM_001100.3:c.1004C>A , LRG_429t1:c.1004C>A | NP_001091.1:p.Pro335Gln | |
| NM_001100.4:c.1004C>A MANE Select | NP_001091.1:p.Pro335Gln |