Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774224T>A , CM000683.2:g.43774224T>A | GRCh38 |
| NC_000021.8:g.45194105T>A , CM000683.1:g.45194105T>A | GRCh37 |
| NC_000021.7:g.44018533T>A | NCBI36 |
| NG_011545.1:g.7155A>T , LRG_485:g.7155A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.275A>T MANE Select | ENSP00000291568.6:p.His92Leu | |
| ENST00000480147.3:n.2045A>T | ||
| ENST00000639959.1:c.142A>T | ||
| ENST00000640406.1:c.*350A>T | ENSP00000492672.1:n.*350A>T | |
| ENST00000675996.1:n.700A>T | ||
| ENST00000291568.5:c.275A>T | ENSP00000291568.5:p.His92Leu | |
| ENST00000480147.1:n.639A>T | ||
| NM_000100.3:c.275A>T , LRG_485t1:c.275A>T | NP_000091.1:p.His92Leu | |
| NM_000100.4:c.275A>T MANE Select | NP_000091.1:p.His92Leu |