Linked Data
gnomAD v4:
17-47744827-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744827C>A , CM000679.2:g.47744827C>A | GRCh38 |
| NC_000017.10:g.45822193C>A , CM000679.1:g.45822193C>A | GRCh37 |
| NC_000017.9:g.43177192C>A | NCBI36 |
| NG_012166.1:g.16584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1069C>A MANE Select | ENSP00000177694.1:p.Pro357Thr | |
| ENST00000177694.1:c.1069C>A | ENSP00000177694.1:p.Pro357Thr | |
| NM_013351.1:c.1069C>A | NP_037483.1:p.Pro357Thr | |
| XM_011524698.1:c.1132C>A | XP_011523000.1:p.Pro378Thr | |
| XM_011524699.1:c.736C>A | XP_011523001.1:p.Pro246Thr | |
| NM_013351.2:c.1069C>A MANE Select | NP_037483.1:p.Pro357Thr |