Linked Data
ClinVar Variation Id:
1966493
ClinVar RCV Id:
RCV002716617
dbSNP Id:
rs1380661508
gnomAD v2:
3-150690306-C-G
gnomAD v4:
3-150972519-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972519C>G , CM000665.2:g.150972519C>G | GRCh38 |
| NC_000003.11:g.150690306C>G , CM000665.1:g.150690306C>G | GRCh37 |
| NC_000003.10:g.152172996C>G | NCBI36 |
| NG_009168.1:g.5481G>C , LRG_700:g.5481G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.190G>C MANE Select | ENSP00000322280.1:p.Gly64Arg | |
| ENST00000468836.2:c.166G>C | ENSP00000419892.2:p.Gly56Arg | |
| ENST00000644099.1:c.31G>C | ENSP00000494762.1:p.Gly11Arg | |
| ENST00000645441.1:c.32G>C | ||
| ENST00000327047.5:c.190G>C | ENSP00000322280.1:p.Gly64Arg | |
| ENST00000328863.8:c.190G>C | ENSP00000329158.4:p.Gly64Arg | |
| ENST00000468836.1:c.-211G>C | ENSP00000419892.1:n.-211G>C | |
| ENST00000472224.1:n.196G>C | ||
| NM_001195794.1:c.190G>C , LRG_700t1:c.190G>C | NP_001182723.1:p.Gly64Arg | |
| NM_001256819.1:c.190G>C | NP_001243748.1:p.Gly64Arg | |
| NM_174878.2:c.190G>C | NP_777367.1:p.Gly64Arg | |
| NR_046380.2:n.481G>C | ||
| XR_924167.1:n.502G>C | ||
| NM_001256819.2:c.190G>C | NP_001243748.1:p.Gly64Arg | |
| NM_174878.3:c.190G>C MANE Select | NP_777367.1:p.Gly64Arg | |
| NR_046380.3:n.209G>C |