Linked Data
ClinVar Variation Id:
352030
ClinVar RCV Id:
RCV000272793
RCV000303457
RCV000309144
RCV000358288
RCV000391865
RCV002520338
RCV003114507
dbSNP Id:
rs772655429
ExAC:
5:149361177 A / G
gnomAD v2:
5-149361177-A-G
gnomAD v4:
5-149981614-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981614A>G , CM000667.2:g.149981614A>G | GRCh38 |
| NC_000005.9:g.149361177A>G , CM000667.1:g.149361177A>G | GRCh37 |
| NC_000005.8:g.149341370A>G | NCBI36 |
| NG_007147.2:g.22732A>G , LRG_684:g.22732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.2021A>G MANE Select | ENSP00000286298.4:p.Tyr674Cys | |
| ENST00000286298.4:c.2021A>G | ENSP00000286298.4:p.Tyr674Cys | |
| ENST00000503336.1:c.372+3263A>G | ENSP00000426053.1:n.372+3263A>G | |
| NM_000112.3:c.2021A>G , LRG_684t1:c.2021A>G | NP_000103.2:p.Tyr674Cys | |
| XM_017009191.2:c.2021A>G | XP_016864680.1:p.Tyr674Cys | |
| NM_000112.4:c.2021A>G MANE Select | NP_000103.2:p.Tyr674Cys |