Linked Data
ClinVar Variation Id:
161245
dbSNP Id:
rs201309310
ExAC:
15:48936908 T / C
gnomAD v2:
15-48936908-T-C
gnomAD v3:
15-48644711-T-C
gnomAD v4:
15-48644711-T-C
ERepo:
CA016208/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644711T>C , CM000677.2:g.48644711T>C | GRCh38 |
| NC_000015.9:g.48936908T>C , CM000677.1:g.48936908T>C | GRCh37 |
| NC_000015.8:g.46724200T>C | NCBI36 |
| NG_008805.2:g.6078A>G , LRG_778:g.6078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.59A>G | ENSP00000453958.2:p.Tyr20Cys | |
| ENST00000674301.2:c.59A>G | ENSP00000501333.2:p.Tyr20Cys | |
| ENST00000316623.10:c.59A>G MANE Select | ENSP00000325527.5:p.Tyr20Cys | |
| ENST00000316623.9:c.59A>G | ENSP00000325527.5:p.Tyr20Cys | |
| ENST00000537463.6:c.59A>G | ENSP00000440294.2:p.Tyr20Cys | |
| ENST00000558230.1:n.122A>G | ||
| ENST00000560355.1:c.59A>G | ENSP00000453901.1:p.Tyr20Cys | |
| NM_000138.4:c.59A>G , LRG_778t1:c.59A>G | NP_000129.3:p.Tyr20Cys | |
| NM_000138.5:c.59A>G MANE Select | NP_000129.3:p.Tyr20Cys |