Linked Data
ClinVar Variation Id:
1505237
ClinVar RCV Id:
RCV002047996
dbSNP Id:
rs371298738
ExAC:
20:44639561 A / G
gnomAD v2:
20-44639561-A-G
gnomAD v4:
20-46010922-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010922A>G , CM000682.2:g.46010922A>G | GRCh38 |
| NC_000020.10:g.44639561A>G , CM000682.1:g.44639561A>G | GRCh37 |
| NC_000020.9:g.44072968A>G | NCBI36 |
| NG_011468.1:g.7015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521A>G MANE Select | ENSP00000361405.3:p.Glu174Gly | |
| NM_004994.2:c.521A>G | NP_004985.2:p.Glu174Gly | |
| NM_004994.3:c.521A>G MANE Select | NP_004985.2:p.Glu174Gly |