Linked Data
ClinVar Variation Id:
2560597
ClinVar RCV Id:
RCV004329909
dbSNP Id:
rs773838966
ExAC:
8:37823459 A / G
gnomAD v2:
8-37823459-A-G
gnomAD v3:
8-37965941-A-G
gnomAD v4:
8-37965941-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965941A>G , CM000670.2:g.37965941A>G | GRCh38 |
| NC_000008.10:g.37823459A>G , CM000670.1:g.37823459A>G | GRCh37 |
| NC_000008.9:g.37942616A>G | NCBI36 |
| NG_011936.1:g.5726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.529T>C MANE Select | ENSP00000343782.3:p.Trp177Arg | |
| ENST00000520341.2:n.657T>C | ||
| ENST00000647937.1:c.13T>C | ENSP00000497740.1:p.Trp5Arg | |
| ENST00000345060.4:c.529T>C | ENSP00000343782.3:p.Trp177Arg | |
| ENST00000614635.1:c.529T>C | ENSP00000480325.1:p.Trp177Arg | |
| NM_000025.2:c.529T>C | NP_000016.1:p.Trp177Arg | |
| NM_000025.3:c.529T>C MANE Select | NP_000016.1:p.Trp177Arg |