Linked Data
ClinVar Variation Id:
246549
dbSNP Id:
rs879254308
gnomAD v2:
14-102508040-C-T
gnomAD v4:
14-102041703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102041703C>T , CM000676.2:g.102041703C>T | GRCh38 |
| NC_000014.8:g.102508040C>T , CM000676.1:g.102508040C>T | GRCh37 |
| NC_000014.7:g.101577793C>T | NCBI36 |
| NG_008777.1:g.82176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3530C>T | ENSP00000506816.1:n.*3530C>T | |
| ENST00000360184.10:c.12071C>T MANE Select | ENSP00000348965.4:p.Pro4024Leu | |
| ENST00000553701.1:n.347-4934G>A | ||
| ENST00000556139.2:n.623C>T | ||
| ENST00000556499.3:n.1204C>T | ||
| ENST00000557242.1:n.329-4934G>A | ||
| ENST00000557551.1:n.111+2590G>A | ||
| ENST00000643437.1:n.2025C>T | ||
| ENST00000643829.1:n.1900C>T | ||
| ENST00000644794.1:n.2190C>T | ||
| ENST00000644881.2:c.12071C>T | ENSP00000495022.2:p.Pro4024Leu | |
| ENST00000644888.1:n.44C>T | ||
| ENST00000645039.2:c.11820C>T | ENSP00000495220.2:p.Ala3940= | |
| ENST00000645085.1:n.317C>T | ||
| ENST00000645149.2:c.11924C>T | ENSP00000495944.2:p.Pro3975Leu | |
| ENST00000645697.1:n.2734C>T | ||
| ENST00000647204.2:n.1312C>T | ||
| ENST00000647366.1:n.5625C>T | ||
| ENST00000679486.1:c.12071C>T | ENSP00000506688.1:p.Pro4024Leu | |
| ENST00000679629.1:c.*94C>T | ENSP00000505589.1:n.*94C>T | |
| ENST00000679720.1:c.12071C>T | ENSP00000505938.1:p.Pro4024Leu | |
| ENST00000679910.1:c.*3153C>T | ENSP00000506521.1:n.*3153C>T | |
| ENST00000680120.1:c.12071C>T | ENSP00000504863.1:p.Pro4024Leu | |
| ENST00000680200.1:c.*1330C>T | ENSP00000506166.1:n.*1330C>T | |
| ENST00000680313.1:c.12071C>T | ENSP00000506208.1:p.Pro4024Leu | |
| ENST00000680423.1:c.*3802C>T | ENSP00000505483.1:n.*3802C>T | |
| ENST00000680715.1:c.12071C>T | ENSP00000505332.1:p.Pro4024Leu | |
| ENST00000681010.1:c.12071C>T | ENSP00000505201.1:p.Pro4024Leu | |
| ENST00000681066.1:c.*94C>T | ENSP00000506344.1:n.*94C>T | |
| ENST00000681123.1:c.*94C>T | ENSP00000506124.1:n.*94C>T | |
| ENST00000681283.1:c.*783C>T | ENSP00000505667.1:n.*783C>T | |
| ENST00000681536.1:c.*5270C>T | ENSP00000505821.1:n.*5270C>T | |
| ENST00000681574.1:c.12071C>T | ENSP00000505523.1:p.Pro4024Leu | |
| ENST00000681822.1:c.12071C>T | ENSP00000505744.1:p.Pro4024Leu | |
| ENST00000360184.8:c.12071C>T | ENSP00000348965.4:p.Pro4024Leu | |
| ENST00000556139.1:n.623C>T | ||
| NM_001376.4:c.12071C>T | NP_001367.2:p.Pro4024Leu | |
| NM_001376.5:c.12071C>T MANE Select | NP_001367.2:p.Pro4024Leu |