Linked Data
ClinVar Variation Id:
2923530
ClinVar RCV Id:
RCV003783088
dbSNP Id:
rs777153450
ExAC:
17:37822056 G / C
gnomAD v2:
17-37822056-G-C
gnomAD v3:
17-39665803-G-C
gnomAD v4:
17-39665803-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665803G>C , CM000679.2:g.39665803G>C | GRCh38 |
| NC_000017.10:g.37822056G>C , CM000679.1:g.37822056G>C | GRCh37 |
| NC_000017.9:g.35075582G>C | NCBI36 |
| NG_008892.1:g.5458G>C , LRG_210:g.5458G>C | |
| NG_042278.1:g.2823G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.198G>C MANE Select | ENSP00000312624.2:p.Trp66Cys | |
| ENST00000309889.2:c.198G>C | ENSP00000312624.2:p.Trp66Cys | |
| ENST00000578283.1:c.174+24G>C | ENSP00000462787.1:n.174+24G>C | |
| NM_003673.3:c.198G>C , LRG_210t1:c.198G>C | NP_003664.1:p.Trp66Cys | |
| NM_003673.4:c.198G>C MANE Select | NP_003664.1:p.Trp66Cys |