Linked Data
ClinVar Variation Id:
343816
ClinVar RCV Id:
RCV000360857
dbSNP Id:
rs780643561
ExAC:
3:150645633 T / C
gnomAD v2:
3-150645633-T-C
gnomAD v3:
3-150927846-T-C
gnomAD v4:
3-150927846-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150927846T>C , CM000665.2:g.150927846T>C | GRCh38 |
| NC_000003.11:g.150645633T>C , CM000665.1:g.150645633T>C | GRCh37 |
| NC_000003.10:g.152128323T>C | NCBI36 |
| NG_009168.1:g.50154A>G , LRG_700:g.50154A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.*90A>G MANE Select | ENSP00000322280.1:n.*90A>G | |
| ENST00000295911.6:c.342+219A>G | ENSP00000295911.2:n.342+219A>G | |
| ENST00000327047.5:c.*90A>G | ENSP00000322280.1:n.*90A>G | |
| ENST00000562308.5:c.104+13736A>G | ||
| ENST00000565169.1:c.162+13736A>G | ||
| ENST00000569170.5:c.162+13736A>G | ||
| NM_001195794.1:c.*90A>G , LRG_700t1:c.*90A>G | NP_001182723.1:n.*90A>G | |
| NM_001256819.1:c.*403A>G | NP_001243748.1:n.*403A>G | |
| NM_052995.2:c.342+219A>G , LRG_700t2:c.342+219A>G | NP_443721.1:n.342+219A>G | |
| NM_174878.2:c.*90A>G | NP_777367.1:n.*90A>G | |
| NR_046380.2:n.1270A>G | ||
| XR_924167.1:n.1101A>G | ||
| NM_001256819.2:c.*403A>G | NP_001243748.1:n.*403A>G | |
| NM_174878.3:c.*90A>G MANE Select | NP_777367.1:n.*90A>G | |
| NR_046380.3:n.998A>G |