Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744791C>T , CM000679.2:g.47744791C>T | GRCh38 |
| NC_000017.10:g.45822157C>T , CM000679.1:g.45822157C>T | GRCh37 |
| NC_000017.9:g.43177156C>T | NCBI36 |
| NG_012166.1:g.16548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1033C>T MANE Select | ENSP00000177694.1:p.Pro345Ser | |
| ENST00000177694.1:c.1033C>T | ENSP00000177694.1:p.Pro345Ser | |
| NM_013351.1:c.1033C>T | NP_037483.1:p.Pro345Ser | |
| XM_011524698.1:c.1096C>T | XP_011523000.1:p.Pro366Ser | |
| XM_011524699.1:c.700C>T | XP_011523001.1:p.Pro234Ser | |
| NM_013351.2:c.1033C>T MANE Select | NP_037483.1:p.Pro345Ser |