Linked Data
ClinVar Variation Id:
461108
dbSNP Id:
rs876659410
gnomAD v2:
17-59793369-G-A
gnomAD v4:
17-61716008-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716008G>A , CM000679.2:g.61716008G>A | GRCh38 |
| NC_000017.10:g.59793369G>A , CM000679.1:g.59793369G>A | GRCh37 |
| NC_000017.9:g.57148151G>A | NCBI36 |
| NG_007409.2:g.152552C>T , LRG_300:g.152552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2565C>T | ENSP00000507191.1:n.2565C>T | |
| ENST00000682073.1:n.1175C>T | ||
| ENST00000682433.1:n.1514C>T | ||
| ENST00000682453.1:c.2435C>T | ENSP00000506943.1:p.Pro812Leu | |
| ENST00000682477.1:c.*1861C>T | ENSP00000507075.1:n.*1861C>T | |
| ENST00000682589.1:n.8312C>T | ||
| ENST00000682755.1:c.2213C>T | ENSP00000507660.1:p.Pro738Leu | |
| ENST00000682989.1:c.2435C>T | ENSP00000507786.1:p.Pro812Leu | |
| ENST00000683039.1:c.2435C>T | ENSP00000508303.1:p.Pro812Leu | |
| ENST00000683235.1:c.2435C>T | ENSP00000507646.1:p.Pro812Leu | |
| ENST00000683535.1:n.565C>T | ||
| ENST00000684471.1:n.848C>T | ||
| ENST00000684584.1:c.1928C>T | ENSP00000508044.1:p.Pro643Leu | |
| ENST00000684626.1:n.764C>T | ||
| ENST00000684769.1:c.500C>T | ENSP00000507691.1:p.Pro167Leu | |
| ENST00000259008.7:c.2435C>T MANE Select | ENSP00000259008.2:p.Pro812Leu | |
| ENST00000259008.6:c.2435C>T | ENSP00000259008.2:p.Pro812Leu | |
| ENST00000577598.5:c.2435C>T | ENSP00000464654.1:p.Pro812Leu | |
| NM_032043.2:c.2435C>T , LRG_300t1:c.2435C>T | NP_114432.2:p.Pro812Leu | |
| XM_011525332.1:c.2495C>T | XP_011523634.1:p.Pro832Leu | |
| XM_011525333.1:c.2495C>T | XP_011523635.1:p.Pro832Leu | |
| XM_011525334.1:c.2495C>T | XP_011523636.1:p.Pro832Leu | |
| XM_011525335.1:c.2435C>T | XP_011523637.1:p.Pro812Leu | |
| XM_011525336.1:c.2375C>T | XP_011523638.1:p.Pro792Leu | |
| XM_011525337.1:c.2294C>T | XP_011523639.1:p.Pro765Leu | |
| XM_011525338.1:c.2012C>T | XP_011523640.1:p.Pro671Leu | |
| XM_011525339.1:c.*76C>T | XP_011523641.1:n.*76C>T | |
| XM_011525340.1:c.2495C>T | XP_011523642.1:p.Pro832Leu | |
| XM_011525332.3:c.2495C>T | XP_011523634.1:p.Pro832Leu | |
| XM_011525333.3:c.2495C>T | XP_011523635.1:p.Pro832Leu | |
| XM_011525334.2:c.2495C>T | XP_011523636.1:p.Pro832Leu | |
| XM_011525335.3:c.2435C>T | XP_011523637.1:p.Pro812Leu | |
| XM_011525336.2:c.2375C>T | XP_011523638.1:p.Pro792Leu | |
| XM_011525337.2:c.2294C>T | XP_011523639.1:p.Pro765Leu | |
| XM_011525338.2:c.2012C>T | XP_011523640.1:p.Pro671Leu | |
| XM_011525339.3:c.*76C>T | XP_011523641.1:n.*76C>T | |
| XM_011525340.3:c.2495C>T | XP_011523642.1:p.Pro832Leu | |
| XM_017025200.1:c.1952C>T | XP_016880689.1:p.Pro651Leu | |
| XM_017025201.1:c.1952C>T | XP_016880690.1:p.Pro651Leu | |
| XM_017025202.1:c.581C>T | XP_016880691.1:p.Pro194Leu | |
| XM_017025203.1:c.581C>T | XP_016880692.1:p.Pro194Leu | |
| NM_032043.3:c.2435C>T MANE Select | NP_114432.2:p.Pro812Leu |