Linked Data
ClinVar Variation Id:
343799
dbSNP Id:
rs201534956
ExAC:
3:150644685 C / T
gnomAD v2:
3-150644685-C-T
gnomAD v3:
3-150926898-C-T
gnomAD v4:
3-150926898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926898C>T , CM000665.2:g.150926898C>T | GRCh38 |
| NC_000003.11:g.150644685C>T , CM000665.1:g.150644685C>T | GRCh37 |
| NC_000003.10:g.152127375C>T | NCBI36 |
| NG_009168.1:g.51102G>A , LRG_700:g.51102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.*1038G>A MANE Select | ENSP00000322280.1:n.*1038G>A | |
| ENST00000295911.6:c.343-26G>A | ENSP00000295911.2:n.343-26G>A | |
| ENST00000327047.5:c.*1038G>A | ENSP00000322280.1:n.*1038G>A | |
| ENST00000562308.5:c.104+14684G>A | ||
| ENST00000565169.1:c.162+14684G>A | ||
| ENST00000569170.5:c.162+14684G>A | ||
| NM_001195794.1:c.*1038G>A , LRG_700t1:c.*1038G>A | NP_001182723.1:n.*1038G>A | |
| NM_001256819.1:c.*1351G>A | NP_001243748.1:n.*1351G>A | |
| NM_052995.2:c.343-26G>A , LRG_700t2:c.343-26G>A | NP_443721.1:n.343-26G>A | |
| NM_174878.2:c.*1038G>A | NP_777367.1:n.*1038G>A | |
| NR_046380.2:n.2218G>A | ||
| XR_924167.1:n.2049G>A | ||
| NM_001256819.2:c.*1351G>A | NP_001243748.1:n.*1351G>A | |
| NM_174878.3:c.*1038G>A MANE Select | NP_777367.1:n.*1038G>A | |
| NR_046380.3:n.1946G>A |