Linked Data
ClinVar Variation Id:
2339
ClinVar RCV Id:
RCV002444414
dbSNP Id:
rs121908258
ExAC:
15:40764290 A / G
gnomAD v2:
15-40764290-A-G
gnomAD v3:
15-40472091-A-G
gnomAD v4:
15-40472091-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472091A>G , CM000677.2:g.40472091A>G | GRCh38 |
| NC_000015.9:g.40764290A>G , CM000677.1:g.40764290A>G | GRCh37 |
| NC_000015.8:g.38551582A>G | NCBI36 |
| NG_017074.1:g.6131A>G , LRG_600:g.6131A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306243.7:c.878A>G MANE Select | ENSP00000307297.6:p.Tyr293Cys | |
| ENST00000306243.6:c.878A>G | ENSP00000307297.5:p.Tyr293Cys | |
| ENST00000559991.1:c.803A>G | ENSP00000453882.1:p.Tyr268Cys | |
| NM_130468.3:c.878A>G , LRG_600t1:c.878A>G | NP_569735.1:p.Tyr293Cys | |
| NM_130468.4:c.878A>G MANE Select | NP_569735.1:p.Tyr293Cys |