Linked Data
ClinVar Variation Id:
5943
ClinVar RCV Id:
RCV003221409
dbSNP Id:
rs28937596
gnomAD v4:
3-184144111-T-C
PubMed:
PMID:11704758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184144111T>C , CM000665.2:g.184144111T>C | GRCh38 |
| NC_000003.11:g.183861899T>C , CM000665.1:g.183861899T>C | GRCh37 |
| NC_000003.10:g.185344593T>C | NCBI36 |
| NG_015826.1:g.14090T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.2204T>C | ||
| ENST00000468748.7:n.2957T>C | ||
| ENST00000484154.2:n.2944T>C | ||
| ENST00000491008.6:n.2646T>C | ||
| ENST00000492226.2:n.2981T>C | ||
| ENST00000492773.6:c.1636T>C | ||
| ENST00000647636.1:c.*731T>C | ENSP00000497505.1:n.*731T>C | |
| ENST00000647909.1:c.1906T>C | ENSP00000498164.1:p.Trp636Arg | |
| ENST00000648145.1:c.1674T>C | ||
| ENST00000648189.1:c.1716T>C | ||
| ENST00000648256.1:c.1854T>C | ENSP00000497356.1:n.1854T>C | |
| ENST00000648314.1:c.*1288-17T>C | ENSP00000496920.1:n.*1288-17T>C | |
| ENST00000648599.1:c.*1165T>C | ENSP00000497159.1:n.*1165T>C | |
| ENST00000648630.1:c.2060T>C | ENSP00000497887.1:n.2060T>C | |
| ENST00000648682.1:c.*1021T>C | ENSP00000498185.1:n.*1021T>C | |
| ENST00000648882.1:c.*1708T>C | ENSP00000497603.1:n.*1708T>C | |
| ENST00000648890.1:c.*305T>C | ENSP00000497503.1:n.*305T>C | |
| ENST00000648915.2:c.1882T>C MANE Select | ENSP00000497160.1:p.Trp628Arg | |
| ENST00000649545.1:c.1541T>C | ||
| ENST00000649688.1:c.*1474T>C | ENSP00000497097.1:n.*1474T>C | |
| ENST00000649814.1:n.2480T>C | ||
| ENST00000650270.1:c.1760T>C | ||
| ENST00000273783.7:c.1882T>C | ENSP00000273783.3:p.Trp628Arg | |
| ENST00000444495.1:c.1882T>C | ENSP00000409142.1:p.Trp628Arg | |
| ENST00000465218.2:n.664T>C | ||
| ENST00000481054.5:n.2808T>C | ||
| ENST00000491144.5:n.2386T>C | ||
| ENST00000492226.1:n.58T>C | ||
| NM_003907.2:c.1882T>C | NP_003898.2:p.Trp628Arg | |
| XM_011513265.1:c.1132T>C | XP_011511567.1:p.Trp378Arg | |
| XM_011513266.1:c.1045T>C | XP_011511568.1:p.Trp349Arg | |
| XR_924208.1:n.2849T>C | ||
| NM_003907.3:c.1882T>C MANE Select | NP_003898.2:p.Trp628Arg | |
| XM_011513266.3:c.1045T>C | XP_011511568.1:p.Trp349Arg | |
| XR_001740352.2:n.2256T>C | ||
| XR_001740353.2:n.2272T>C | ||
| XR_924208.2:n.2261T>C |