Linked Data
ClinVar Variation Id:
1641348
ClinVar RCV Id:
RCV002134301
dbSNP Id:
rs2109007181
gnomAD v4:
3-184138009-T-C
MyVariant Identifiers:
chr3:g.183855797T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138009T>C , CM000665.2:g.184138009T>C | GRCh38 |
| NC_000003.11:g.183855797T>C , CM000665.1:g.183855797T>C | GRCh37 |
| NC_000003.10:g.185338491T>C | NCBI36 |
| NG_015826.1:g.7988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.641T>C | ||
| ENST00000468748.7:n.601T>C | ||
| ENST00000484154.2:n.1239T>C | ||
| ENST00000491008.6:n.1366T>C | ||
| ENST00000492226.2:n.615T>C | ||
| ENST00000492773.6:c.350T>C | ||
| ENST00000647636.1:c.618T>C | ENSP00000497505.1:p.Asp206= | |
| ENST00000647909.1:c.642T>C | ENSP00000498164.1:p.Asp214= | |
| ENST00000648145.1:c.386T>C | ||
| ENST00000648189.1:c.368T>C | ||
| ENST00000648256.1:c.567T>C | ENSP00000497356.1:p.Asp189= | |
| ENST00000648314.1:c.618T>C | ENSP00000496920.1:p.Asp206= | |
| ENST00000648599.1:c.618T>C | ENSP00000497159.1:p.Asp206= | |
| ENST00000648630.1:c.612T>C | ENSP00000497887.1:p.Asp204= | |
| ENST00000648682.1:c.618T>C | ENSP00000498185.1:p.Asp206= | |
| ENST00000648882.1:c.*444T>C | ENSP00000497603.1:n.*444T>C | |
| ENST00000648890.1:c.618T>C | ENSP00000497503.1:p.Asp206= | |
| ENST00000648915.2:c.618T>C MANE Select | ENSP00000497160.1:p.Asp206= | |
| ENST00000649545.1:c.352T>C | ||
| ENST00000649688.1:c.618T>C | ENSP00000497097.1:p.Asp206= | |
| ENST00000649814.1:n.667T>C | ||
| ENST00000650270.1:c.485T>C | ||
| ENST00000273783.7:c.618T>C | ENSP00000273783.3:p.Asp206= | |
| ENST00000432982.5:c.245+1334T>C | ||
| ENST00000444495.1:c.618T>C | ENSP00000409142.1:p.Asp206= | |
| ENST00000468748.5:n.71T>C | ||
| ENST00000481054.5:n.619T>C | ||
| ENST00000491008.5:n.582T>C | ||
| ENST00000491144.5:n.1058T>C | ||
| ENST00000498831.1:n.573T>C | ||
| NM_003907.2:c.618T>C | NP_003898.2:p.Asp206= | |
| XR_924208.1:n.1569T>C | ||
| NM_003907.3:c.618T>C MANE Select | NP_003898.2:p.Asp206= | |
| XM_011513266.3:c.-284T>C | XP_011511568.1:n.-284T>C | |
| XR_001740352.2:n.981T>C | ||
| XR_001740353.2:n.981T>C | ||
| XR_924208.2:n.981T>C |