Linked Data
ClinVar Variation Id:
1462204
ClinVar RCV Id:
RCV001968348
dbSNP Id:
rs146025102
ExAC:
19:4816651 T / C
gnomAD v2:
19-4816651-T-C
gnomAD v3:
19-4816639-T-C
gnomAD v4:
19-4816639-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816639T>C , CM000681.2:g.4816639T>C | GRCh38 |
| NC_000019.9:g.4816651T>C , CM000681.1:g.4816651T>C | GRCh37 |
| NC_000019.8:g.4767651T>C | NCBI36 |
| NG_031998.1:g.20104A>G , LRG_358:g.20104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1739A>G MANE Select | ENSP00000248244.4:p.Tyr580Cys | |
| ENST00000248244.5:c.1739A>G | ENSP00000248244.4:p.Tyr580Cys | |
| ENST00000621756.1:c.1322A>G | ENSP00000479467.1:p.Tyr441Cys | |
| NM_182919.3:c.1739A>G , LRG_358t1:c.1739A>G | NP_891549.1:p.Tyr580Cys | |
| NM_001385678.1:c.1697A>G | NP_001372607.1:p.Tyr566Cys | |
| NM_001385679.1:c.1604A>G | NP_001372608.1:p.Tyr535Cys | |
| NM_001385680.1:c.1097A>G | NP_001372609.1:p.Tyr366Cys | |
| NM_182919.4:c.1739A>G MANE Select | NP_891549.1:p.Tyr580Cys |