Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461659A>C , CM000672.2:g.122461659A>C | GRCh38 |
| NC_000010.10:g.124221175A>C , CM000672.1:g.124221175A>C | GRCh37 |
| NC_000010.9:g.124211165A>C | NCBI36 |
| NG_011554.1:g.5135A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.7A>C MANE Select | ENSP00000357980.3:p.Ile3Leu | |
| ENST00000648167.1:c.154+2950A>C | ENSP00000498033.1:n.154+2950A>C | |
| ENST00000368984.7:c.7A>C | ENSP00000357980.3:p.Ile3Leu | |
| NM_002775.4:c.7A>C | NP_002766.1:p.Ile3Leu | |
| NM_002775.5:c.7A>C MANE Select | NP_002766.1:p.Ile3Leu |