Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774263G>A , CM000683.2:g.43774263G>A | GRCh38 |
| NC_000021.8:g.45194144G>A , CM000683.1:g.45194144G>A | GRCh37 |
| NC_000021.7:g.44018572G>A | NCBI36 |
| NG_011545.1:g.7116C>T , LRG_485:g.7116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.236C>T MANE Select | ENSP00000291568.6:p.Pro79Leu | |
| ENST00000480147.3:n.2006C>T | ||
| ENST00000639959.1:c.103C>T | ||
| ENST00000640406.1:c.*311C>T | ENSP00000492672.1:n.*311C>T | |
| ENST00000675996.1:n.661C>T | ||
| ENST00000291568.5:c.236C>T | ENSP00000291568.5:p.Pro79Leu | |
| ENST00000480147.1:n.600C>T | ||
| NM_000100.3:c.236C>T , LRG_485t1:c.236C>T | NP_000091.1:p.Pro79Leu | |
| NM_000100.4:c.236C>T MANE Select | NP_000091.1:p.Pro79Leu |