Linked Data
dbSNP Id:
rs201756319
ExAC:
3:49162597 A / C
gnomAD v2:
3-49162597-A-C
gnomAD v4:
3-49125164-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125164A>C , CM000665.2:g.49125164A>C | GRCh38 |
| NC_000003.11:g.49162597A>C , CM000665.1:g.49162597A>C | GRCh37 |
| NC_000003.10:g.49137601A>C | NCBI36 |
| NG_008094.1:g.13003T>G | |
| NG_054716.1:g.775T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2726T>G MANE Select | ENSP00000307156.4:p.Ile909Ser | |
| ENST00000305544.8:c.2726T>G | ENSP00000307156.4:p.Ile909Ser | |
| ENST00000418109.5:c.2726T>G | ENSP00000388325.1:p.Ile909Ser | |
| ENST00000462930.5:n.133T>G | ||
| ENST00000464891.5:n.459T>G | ||
| ENST00000483057.1:n.326T>G | ||
| ENST00000486298.5:n.431T>G | ||
| ENST00000542580.1:n.41T>G | ||
| NM_002292.3:c.2726T>G | NP_002283.3:p.Ile909Ser | |
| XM_005265127.3:c.2726T>G | XP_005265184.1:p.Ile909Ser | |
| XM_005265127.4:c.2726T>G | XP_005265184.1:p.Ile909Ser | |
| NM_002292.4:c.2726T>G MANE Select | NP_002283.3:p.Ile909Ser |