Linked Data
ClinVar Variation Id:
343797
ClinVar RCV Id:
RCV000386224
dbSNP Id:
rs769315815
ExAC:
3:150644558 G / C
gnomAD v2:
3-150644558-G-C
gnomAD v3:
3-150926771-G-C
gnomAD v4:
3-150926771-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926771G>C , CM000665.2:g.150926771G>C | GRCh38 |
| NC_000003.11:g.150644558G>C , CM000665.1:g.150644558G>C | GRCh37 |
| NC_000003.10:g.152127248G>C | NCBI36 |
| NG_009168.1:g.51229C>G , LRG_700:g.51229C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.*1165C>G MANE Select | ENSP00000322280.1:n.*1165C>G | |
| ENST00000295911.6:c.*81C>G | ENSP00000295911.2:n.*81C>G | |
| ENST00000327047.5:c.*1165C>G | ENSP00000322280.1:n.*1165C>G | |
| ENST00000562308.5:c.104+14811C>G | ||
| ENST00000565169.1:c.162+14811C>G | ||
| ENST00000569170.5:c.162+14811C>G | ||
| NM_001195794.1:c.*1165C>G , LRG_700t1:c.*1165C>G | NP_001182723.1:n.*1165C>G | |
| NM_001256819.1:c.*1478C>G | NP_001243748.1:n.*1478C>G | |
| NM_052995.2:c.*81C>G , LRG_700t2:c.*81C>G | NP_443721.1:n.*81C>G | |
| NM_174878.2:c.*1165C>G | NP_777367.1:n.*1165C>G | |
| NR_046380.2:n.2345C>G | ||
| XR_924167.1:n.2176C>G | ||
| NM_001256819.2:c.*1478C>G | NP_001243748.1:n.*1478C>G | |
| NM_174878.3:c.*1165C>G MANE Select | NP_777367.1:n.*1165C>G | |
| NR_046380.3:n.2073C>G |