Linked Data
ClinVar Variation Id:
126890
ClinVar RCV Id:
RCV000128607
dbSNP Id:
rs2255183
gnomAD v2:
20-7920604-A-G
gnomAD v3:
20-7939957-A-G
gnomAD v4:
20-7939957-A-G
PubMed:
PMID:24886237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7939957A>G , CM000682.2:g.7939957A>G | GRCh38 |
| NC_000020.10:g.7920604A>G , CM000682.1:g.7920604A>G | GRCh37 |
| NC_000020.9:g.7868604A>G | NCBI36 |
| NG_046733.1:g.5490T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378789.4:c.137+329T>C MANE Select | ENSP00000368066.3:n.137+329T>C | |
| ENST00000378789.3:c.137+329T>C | ENSP00000368066.3:n.137+329T>C | |
| NM_017545.2:c.137+329T>C | NP_060015.1:n.137+329T>C | |
| NM_017545.3:c.137+329T>C MANE Select | NP_060015.1:n.137+329T>C |