Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744751G>C , CM000679.2:g.47744751G>C | GRCh38 |
| NC_000017.10:g.45822117G>C , CM000679.1:g.45822117G>C | GRCh37 |
| NC_000017.9:g.43177116G>C | NCBI36 |
| NG_012166.1:g.16508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.993G>C MANE Select | ENSP00000177694.1:p.Met331Ile | |
| ENST00000177694.1:c.993G>C | ENSP00000177694.1:p.Met331Ile | |
| NM_013351.1:c.993G>C | NP_037483.1:p.Met331Ile | |
| XM_011524698.1:c.1056G>C | XP_011523000.1:p.Met352Ile | |
| XM_011524699.1:c.660G>C | XP_011523001.1:p.Met220Ile | |
| NM_013351.2:c.993G>C MANE Select | NP_037483.1:p.Met331Ile |