Linked Data
ClinVar Variation Id:
3107536
ClinVar RCV Id:
RCV004397369
dbSNP Id:
rs755499061
ExAC:
3:183778039 T / C
gnomAD v2:
3-183778039-T-C
gnomAD v3:
3-184060251-T-C
gnomAD v4:
3-184060251-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060251T>C , CM000665.2:g.184060251T>C | GRCh38 |
| NC_000003.11:g.183778039T>C , CM000665.1:g.183778039T>C | GRCh37 |
| NC_000003.10:g.185260733T>C | NCBI36 |
| NG_012749.1:g.12205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1243T>C MANE Select | ENSP00000322617.1:p.Trp415Arg | |
| ENST00000318351.1:c.1243T>C | ENSP00000322617.1:p.Trp415Arg | |
| NM_130770.2:c.1243T>C | NP_570126.2:p.Trp415Arg | |
| NM_130770.3:c.1243T>C MANE Select | NP_570126.2:p.Trp415Arg |