Linked Data
ClinVar Variation Id:
1453777
dbSNP Id:
rs113994044
ExAC:
3:183854407 T / C
gnomAD v2:
3-183854407-T-C
gnomAD v4:
3-184136619-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136619T>C , CM000665.2:g.184136619T>C | GRCh38 |
| NC_000003.11:g.183854407T>C , CM000665.1:g.183854407T>C | GRCh37 |
| NC_000003.10:g.185337101T>C | NCBI36 |
| NG_015826.1:g.6598T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432569.2:c.203T>C | ENSP00000414775.1:p.Leu68Ser | |
| ENST00000465218.3:n.226T>C | ||
| ENST00000468748.7:n.186T>C | ||
| ENST00000471832.2:c.*197T>C | ENSP00000497786.1:n.*197T>C | |
| ENST00000491008.6:n.68T>C | ||
| ENST00000492226.2:n.200T>C | ||
| ENST00000647636.1:c.203T>C | ENSP00000497505.1:p.Leu68Ser | |
| ENST00000647909.1:c.203T>C | ENSP00000498164.1:p.Leu68Ser | |
| ENST00000648256.1:c.152T>C | ENSP00000497356.1:p.Leu51Ser | |
| ENST00000648314.1:c.203T>C | ENSP00000496920.1:p.Leu68Ser | |
| ENST00000648599.1:c.203T>C | ENSP00000497159.1:p.Leu68Ser | |
| ENST00000648630.1:c.197T>C | ENSP00000497887.1:p.Leu66Ser | |
| ENST00000648682.1:c.203T>C | ENSP00000498185.1:p.Leu68Ser | |
| ENST00000648882.1:c.*29T>C | ENSP00000497603.1:n.*29T>C | |
| ENST00000648890.1:c.203T>C | ENSP00000497503.1:p.Leu68Ser | |
| ENST00000648915.2:c.203T>C MANE Select | ENSP00000497160.1:p.Leu68Ser | |
| ENST00000649688.1:c.203T>C | ENSP00000497097.1:p.Leu68Ser | |
| ENST00000649814.1:n.252T>C | ||
| ENST00000650244.1:c.348T>C | ENSP00000497227.1:n.348T>C | |
| ENST00000650270.1:c.70T>C | ||
| ENST00000273783.7:c.203T>C | ENSP00000273783.3:p.Leu68Ser | |
| ENST00000432569.1:c.203T>C | ENSP00000414775.1:p.Leu68Ser | |
| ENST00000432982.5:c.189T>C | ||
| ENST00000444495.1:c.203T>C | ENSP00000409142.1:p.Leu68Ser | |
| ENST00000471832.1:n.134T>C | ||
| ENST00000481054.5:n.204T>C | ||
| ENST00000491144.5:n.551T>C | ||
| ENST00000498831.1:n.59T>C | ||
| NM_003907.2:c.203T>C | NP_003898.2:p.Leu68Ser | |
| XR_924208.1:n.1154T>C | ||
| NM_003907.3:c.203T>C MANE Select | NP_003898.2:p.Leu68Ser | |
| XM_011513266.3:c.-699T>C | XP_011511568.1:n.-699T>C | |
| XR_001740352.2:n.566T>C | ||
| XR_001740353.2:n.566T>C | ||
| XR_924208.2:n.566T>C |