Linked Data
ClinVar Variation Id:
2034820
ClinVar RCV Id:
RCV002877196
MyVariant Identifiers:
chr3:g.183855719G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137931G>T , CM000665.2:g.184137931G>T | GRCh38 |
| NC_000003.11:g.183855719G>T , CM000665.1:g.183855719G>T | GRCh37 |
| NC_000003.10:g.185338413G>T | NCBI36 |
| NG_015826.1:g.7910G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.563G>T | ||
| ENST00000468748.7:n.523G>T | ||
| ENST00000484154.2:n.1161G>T | ||
| ENST00000491008.6:n.1288G>T | ||
| ENST00000492226.2:n.537G>T | ||
| ENST00000492773.6:c.272G>T | ||
| ENST00000647636.1:c.540G>T | ENSP00000497505.1:p.Val180= | |
| ENST00000647909.1:c.564G>T | ENSP00000498164.1:p.Val188= | |
| ENST00000648145.1:c.308G>T | ||
| ENST00000648189.1:c.290G>T | ||
| ENST00000648256.1:c.489G>T | ENSP00000497356.1:p.Val163= | |
| ENST00000648314.1:c.540G>T | ENSP00000496920.1:p.Val180= | |
| ENST00000648599.1:c.540G>T | ENSP00000497159.1:p.Val180= | |
| ENST00000648630.1:c.534G>T | ENSP00000497887.1:p.Val178= | |
| ENST00000648682.1:c.540G>T | ENSP00000498185.1:p.Val180= | |
| ENST00000648882.1:c.*366G>T | ENSP00000497603.1:n.*366G>T | |
| ENST00000648890.1:c.540G>T | ENSP00000497503.1:p.Val180= | |
| ENST00000648915.2:c.540G>T MANE Select | ENSP00000497160.1:p.Val180= | |
| ENST00000649545.1:c.274G>T | ||
| ENST00000649688.1:c.540G>T | ENSP00000497097.1:p.Val180= | |
| ENST00000649814.1:n.589G>T | ||
| ENST00000650244.1:c.685G>T | ENSP00000497227.1:n.685G>T | |
| ENST00000650270.1:c.407G>T | ||
| ENST00000273783.7:c.540G>T | ENSP00000273783.3:p.Val180= | |
| ENST00000432982.5:c.245+1256G>T | ||
| ENST00000444495.1:c.540G>T | ENSP00000409142.1:p.Val180= | |
| ENST00000481054.5:n.541G>T | ||
| ENST00000491008.5:n.504G>T | ||
| ENST00000491144.5:n.980G>T | ||
| ENST00000498831.1:n.495G>T | ||
| NM_003907.2:c.540G>T | NP_003898.2:p.Val180= | |
| XR_924208.1:n.1491G>T | ||
| NM_003907.3:c.540G>T MANE Select | NP_003898.2:p.Val180= | |
| XM_011513266.3:c.-362G>T | XP_011511568.1:n.-362G>T | |
| XR_001740352.2:n.903G>T | ||
| XR_001740353.2:n.903G>T | ||
| XR_924208.2:n.903G>T |