Linked Data
ClinVar Variation Id:
1208981
dbSNP Id:
rs113994078
ExAC:
3:183859836 C / T
gnomAD v2:
3-183859836-C-T
gnomAD v4:
3-184142048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184142048C>T , CM000665.2:g.184142048C>T | GRCh38 |
| NC_000003.11:g.183859836C>T , CM000665.1:g.183859836C>T | GRCh37 |
| NC_000003.10:g.185342530C>T | NCBI36 |
| NG_015826.1:g.12027C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.1303C>T | ||
| ENST00000468748.7:n.1523C>T | ||
| ENST00000484154.2:n.1510C>T | ||
| ENST00000491008.6:n.2028C>T | ||
| ENST00000492226.2:n.1547C>T | ||
| ENST00000492773.6:c.1034C>T | ||
| ENST00000647636.1:c.*129C>T | ENSP00000497505.1:n.*129C>T | |
| ENST00000647909.1:c.1304C>T | ENSP00000498164.1:p.Pro435Leu | |
| ENST00000648145.1:c.1052C>T | ||
| ENST00000648189.1:c.1098C>T | ||
| ENST00000648256.1:c.1252C>T | ENSP00000497356.1:n.1252C>T | |
| ENST00000648314.1:c.*399C>T | ENSP00000496920.1:n.*399C>T | |
| ENST00000648599.1:c.*563C>T | ENSP00000497159.1:n.*563C>T | |
| ENST00000648630.1:c.1159C>T | ENSP00000497887.1:n.1159C>T | |
| ENST00000648682.1:c.*120C>T | ENSP00000498185.1:n.*120C>T | |
| ENST00000648882.1:c.*1106C>T | ENSP00000497603.1:n.*1106C>T | |
| ENST00000648890.1:c.1280C>T | ENSP00000497503.1:p.Pro427Leu | |
| ENST00000648915.2:c.1280C>T MANE Select | ENSP00000497160.1:p.Pro427Leu | |
| ENST00000649545.1:c.701C>T | ||
| ENST00000649688.1:c.*573C>T | ENSP00000497097.1:n.*573C>T | |
| ENST00000649814.1:n.1329C>T | ||
| ENST00000650270.1:c.1147C>T | ||
| ENST00000273783.7:c.1280C>T | ENSP00000273783.3:p.Pro427Leu | |
| ENST00000432982.5:c.246-189C>T | ||
| ENST00000444495.1:c.1280C>T | ENSP00000409142.1:p.Pro427Leu | |
| ENST00000481054.5:n.1374C>T | ||
| ENST00000491144.5:n.1784C>T | ||
| ENST00000492773.5:n.163C>T | ||
| NM_003907.2:c.1280C>T | NP_003898.2:p.Pro427Leu | |
| XM_011513265.1:c.530C>T | XP_011511567.1:p.Pro177Leu | |
| XM_011513266.1:c.443C>T | XP_011511568.1:p.Pro148Leu | |
| XR_924208.1:n.2231C>T | ||
| NM_003907.3:c.1280C>T MANE Select | NP_003898.2:p.Pro427Leu | |
| XM_011513266.3:c.443C>T | XP_011511568.1:p.Pro148Leu | |
| XR_001740352.2:n.1643C>T | ||
| XR_001740353.2:n.1643C>T | ||
| XR_924208.2:n.1643C>T |