Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744834T>C , CM000679.2:g.47744834T>C | GRCh38 |
| NC_000017.10:g.45822200T>C , CM000679.1:g.45822200T>C | GRCh37 |
| NC_000017.9:g.43177199T>C | NCBI36 |
| NG_012166.1:g.16591T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1076T>C MANE Select | ENSP00000177694.1:p.Leu359Pro | |
| ENST00000177694.1:c.1076T>C | ENSP00000177694.1:p.Leu359Pro | |
| NM_013351.1:c.1076T>C | NP_037483.1:p.Leu359Pro | |
| XM_011524698.1:c.1139T>C | XP_011523000.1:p.Leu380Pro | |
| XM_011524699.1:c.743T>C | XP_011523001.1:p.Leu248Pro | |
| NM_013351.2:c.1076T>C MANE Select | NP_037483.1:p.Leu359Pro |