Linked Data
dbSNP Id:
rs1308489721
gnomAD v2:
19-18499502-G-C
gnomAD v3:
19-18388692-G-C
gnomAD v4:
19-18388692-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388692G>C , CM000681.2:g.18388692G>C | GRCh38 |
| NC_000019.9:g.18499502G>C , CM000681.1:g.18499502G>C | GRCh37 |
| NC_000019.8:g.18360502G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.684G>C | ENSP00000470531.3:p.Trp228Cys | |
| ENST00000597765.2:c.684G>C | ENSP00000469819.2:p.Trp228Cys | |
| ENST00000252809.3:c.684G>C MANE Select | ENSP00000252809.3:p.Trp228Cys | |
| NM_004864.2:c.684G>C | NP_004855.2:p.Trp228Cys | |
| NM_004864.3:c.684G>C | NP_004855.2:p.Trp228Cys | |
| XM_024451789.1:c.684G>C | XP_024307557.1:p.Trp228Cys | |
| NM_004864.4:c.684G>C MANE Select | NP_004855.2:p.Trp228Cys |