Linked Data
ClinVar Variation Id:
4605
ClinVar RCV Id:
RCV000004868
dbSNP Id:
rs121908318
ExAC:
8:143823761 A / G
gnomAD v2:
8-143823761-A-G
gnomAD v3:
8-142742343-A-G
gnomAD v4:
8-142742343-A-G
PubMed:
PMID:12483299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142742343A>G , CM000670.2:g.142742343A>G | GRCh38 |
| NC_000008.10:g.143823761A>G , CM000670.1:g.143823761A>G | GRCh37 |
| NC_000008.9:g.143820763A>G | NCBI36 |
| NG_011494.1:g.5069T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.43T>C MANE Select | ENSP00000246515.1:p.Trp15Arg | |
| ENST00000246515.1:c.43T>C | ENSP00000246515.1:p.Trp15Arg | |
| NM_020427.2:c.43T>C | NP_065160.1:p.Trp15Arg | |
| NM_020427.3:c.43T>C MANE Select | NP_065160.1:p.Trp15Arg |