Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811981T>C , CM000669.2:g.155811981T>C | GRCh38 |
| NC_000007.13:g.155604675T>C , CM000669.1:g.155604675T>C | GRCh37 |
| NC_000007.12:g.155297436T>C | NCBI36 |
| NG_007504.2:g.5293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.142A>G MANE Select | ENSP00000297261.2:p.Ile48Val | |
| ENST00000297261.6:c.142A>G | ENSP00000297261.2:p.Ile48Val | |
| NM_000193.2:c.142A>G | NP_000184.1:p.Ile48Val | |
| NM_000193.3:c.142A>G | NP_000184.1:p.Ile48Val | |
| NM_000193.4:c.142A>G MANE Select | NP_000184.1:p.Ile48Val |