Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454307G>C , CM000679.2:g.7454307G>C | GRCh38 |
| NC_000017.10:g.7357626G>C , CM000679.1:g.7357626G>C | GRCh37 |
| NC_000017.9:g.7298350G>C | NCBI36 |
| NG_008026.1:g.14221G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.831G>C MANE Select | ENSP00000304290.2:p.Met277Ile | |
| ENST00000306071.6:c.831G>C | ENSP00000304290.2:p.Met277Ile | |
| ENST00000536404.6:c.615G>C | ENSP00000439209.2:p.Met205Ile | |
| ENST00000570557.5:c.494G>C | ||
| ENST00000573209.1:n.1775G>C | ||
| ENST00000576360.1:c.605-137G>C | ENSP00000459092.1:n.605-137G>C | |
| NM_000747.2:c.831G>C | NP_000738.2:p.Met277Ile | |
| NM_000747.3:c.831G>C MANE Select | NP_000738.2:p.Met277Ile |