Linked Data
ClinVar Variation Id:
3175036
ClinVar RCV Id:
RCV004474384
dbSNP Id:
rs764350236
ExAC:
17:37821655 T / A
gnomAD v2:
17-37821655-T-A
gnomAD v4:
17-39665402-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665402T>A , CM000679.2:g.39665402T>A | GRCh38 |
| NC_000017.10:g.37821655T>A , CM000679.1:g.37821655T>A | GRCh37 |
| NC_000017.9:g.35075181T>A | NCBI36 |
| NG_008892.1:g.5057T>A , LRG_210:g.5057T>A | |
| NG_042278.1:g.2422T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.43T>A MANE Select | ENSP00000312624.2:p.Cys15Ser | |
| ENST00000309889.2:c.43T>A | ENSP00000312624.2:p.Cys15Ser | |
| ENST00000578283.1:c.43T>A | ENSP00000462787.1:p.Cys15Ser | |
| NM_003673.3:c.43T>A , LRG_210t1:c.43T>A | NP_003664.1:p.Cys15Ser | |
| NM_003673.4:c.43T>A MANE Select | NP_003664.1:p.Cys15Ser |