Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034490T>A , CM000672.2:g.123034490T>A | GRCh38 |
| NC_000010.10:g.124794006T>A , CM000672.1:g.124794006T>A | GRCh37 |
| NC_000010.9:g.124783996T>A | NCBI36 |
| NG_008003.1:g.30578T>A , LRG_451:g.30578T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.177T>A MANE Select | ENSP00000357873.3:p.Asp59Glu | |
| ENST00000358776.6:c.177T>A | ENSP00000357873.3:p.Asp59Glu | |
| ENST00000368869.8:c.-29T>A | ENSP00000357862.4:n.-29T>A | |
| ENST00000411816.2:n.194T>A | ||
| NM_001609.3:c.177T>A , LRG_451t1:c.177T>A | NP_001600.1:p.Asp59Glu | |
| NM_001330174.1:c.-29T>A | NP_001317103.1:n.-29T>A | |
| NM_001330174.2:c.-29T>A | NP_001317103.1:n.-29T>A | |
| NM_001609.4:c.177T>A MANE Select | NP_001600.1:p.Asp59Glu | |
| NM_001330174.3:c.-29T>A | NP_001317103.1:n.-29T>A |