Linked Data
ClinVar Variation Id:
343795
ClinVar RCV Id:
RCV000270866
dbSNP Id:
rs763746069
ExAC:
3:150644392 G / A
gnomAD v2:
3-150644392-G-A
gnomAD v3:
3-150926605-G-A
gnomAD v4:
3-150926605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926605G>A , CM000665.2:g.150926605G>A | GRCh38 |
| NC_000003.11:g.150644392G>A , CM000665.1:g.150644392G>A | GRCh37 |
| NC_000003.10:g.152127082G>A | NCBI36 |
| NG_009168.1:g.51395C>T , LRG_700:g.51395C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.*1331C>T MANE Select | ENSP00000322280.1:n.*1331C>T | |
| ENST00000295911.6:c.*247C>T | ENSP00000295911.2:n.*247C>T | |
| ENST00000327047.5:c.*1331C>T | ENSP00000322280.1:n.*1331C>T | |
| ENST00000562308.5:c.104+14977C>T | ||
| ENST00000565169.1:c.162+14977C>T | ||
| ENST00000569170.5:c.162+14977C>T | ||
| NM_001195794.1:c.*1331C>T , LRG_700t1:c.*1331C>T | NP_001182723.1:n.*1331C>T | |
| NM_001256819.1:c.*1644C>T | NP_001243748.1:n.*1644C>T | |
| NM_052995.2:c.*247C>T , LRG_700t2:c.*247C>T | NP_443721.1:n.*247C>T | |
| NM_174878.2:c.*1331C>T | NP_777367.1:n.*1331C>T | |
| NR_046380.2:n.2511C>T | ||
| XR_924167.1:n.2342C>T | ||
| NM_001256819.2:c.*1644C>T | NP_001243748.1:n.*1644C>T | |
| NM_174878.3:c.*1331C>T MANE Select | NP_777367.1:n.*1331C>T | |
| NR_046380.3:n.2239C>T |