Linked Data
ClinVar Variation Id:
291612
ClinVar RCV Id:
RCV000379344
dbSNP Id:
rs557129908
gnomAD v2:
1-10438631-C-G
gnomAD v3:
1-10378573-C-G
gnomAD v4:
1-10378573-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378573C>G , CM000663.2:g.10378573C>G | GRCh38 |
| NC_000001.10:g.10438631C>G , CM000663.1:g.10438631C>G | GRCh37 |
| NC_000001.9:g.10361218C>G | NCBI36 |
| NG_008069.1:g.172868C>G , LRG_252:g.172868C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*1986C>G MANE Select | ENSP00000502065.1:n.*1986C>G | |
| ENST00000377081.5:c.*171C>G | ENSP00000366284.1:n.*171C>G | |
| ENST00000377086.5:c.*1986C>G | ENSP00000366290.1:n.*1986C>G | |
| ENST00000620295.2:c.5601C>G | ENSP00000478500.1:n.5601C>G | |
| ENST00000622724.3:c.5565C>G | ENSP00000480063.1:n.5565C>G | |
| NM_015074.3:c.*1986C>G , LRG_252t1:c.*1986C>G | NP_055889.2:n.*1986C>G | |
| NM_001365951.1:c.*1986C>G | NP_001352880.1:n.*1986C>G | |
| NM_001365952.1:c.*1986C>G | NP_001352881.1:n.*1986C>G | |
| NM_001365951.3:c.*1986C>G MANE Select | NP_001352880.1:n.*1986C>G |