Linked Data
ClinVar Variation Id:
445830
ClinVar RCV Id:
RCV000514109
dbSNP Id:
rs9813489
ExAC:
3:52326751 C / T
gnomAD v2:
3-52326751-C-T
gnomAD v3:
3-52292735-C-T
gnomAD v4:
3-52292735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292735C>T , CM000665.2:g.52292735C>T | GRCh38 |
| NC_000003.11:g.52326751C>T , CM000665.1:g.52326751C>T | GRCh37 |
| NC_000003.10:g.52301791C>T | NCBI36 |
| NG_023246.1:g.9916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1181C>T MANE Select | ENSP00000389175.2:p.Thr394Ile | |
| ENST00000305690.12:c.*300C>T | ENSP00000301965.9:n.*300C>T | |
| ENST00000436784.6:c.1181C>T | ENSP00000389175.2:p.Thr394Ile | |
| ENST00000461183.5:c.763+166C>T | ENSP00000417264.1:n.763+166C>T | |
| ENST00000471180.5:c.634+166C>T | ENSP00000417526.1:n.634+166C>T | |
| ENST00000473032.5:c.530-311C>T | ENSP00000418951.1:n.530-311C>T | |
| ENST00000477382.1:c.*300C>T | ENSP00000419008.1:n.*300C>T | |
| ENST00000486393.5:c.*544C>T | ENSP00000419868.1:n.*544C>T | |
| ENST00000489173.1:n.1475C>T | ||
| NM_001144951.1:c.*300C>T | NP_001138423.1:n.*300C>T | |
| NM_145262.3:c.1181C>T | NP_660305.2:p.Thr394Ile | |
| NR_026699.1:n.1279C>T | ||
| NR_026700.1:n.695+166C>T | ||
| NR_026701.1:n.1277C>T | ||
| NR_026702.1:n.626-311C>T | ||
| XM_005264878.2:c.*300C>T | XP_005264935.1:n.*300C>T | |
| XR_245095.2:n.2742+166C>T | ||
| XM_017005730.1:c.800C>T | XP_016861219.1:p.Thr267Ile | |
| XM_024453351.1:c.1181C>T | XP_024309119.1:p.Thr394Ile | |
| XM_024453352.1:c.*300C>T | XP_024309120.1:n.*300C>T | |
| XR_001740022.2:n.3083C>T | ||
| XR_001740023.2:n.2917+166C>T | ||
| XR_245095.4:n.2743+166C>T | ||
| NM_145262.4:c.1181C>T MANE Select | NP_660305.2:p.Thr394Ile | |
| NR_026699.2:n.1271C>T | ||
| NR_026700.2:n.687+166C>T | ||
| NR_026701.2:n.1269C>T | ||
| NR_026702.2:n.618-311C>T | ||
| NM_001144951.2:c.*300C>T | NP_001138423.1:n.*300C>T |