Linked Data
ClinVar Variation Id:
483213
dbSNP Id:
rs756712872
ExAC:
17:59761331 A / G
gnomAD v2:
17-59761331-A-G
gnomAD v4:
17-61683970-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683970A>G , CM000679.2:g.61683970A>G | GRCh38 |
| NC_000017.10:g.59761331A>G , CM000679.1:g.59761331A>G | GRCh37 |
| NC_000017.9:g.57116113A>G | NCBI36 |
| NG_007409.2:g.184590T>C , LRG_300:g.184590T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1816T>C | ||
| ENST00000682453.1:c.3076T>C | ENSP00000506943.1:p.Ser1026Pro | |
| ENST00000682477.1:c.*2502T>C | ENSP00000507075.1:n.*2502T>C | |
| ENST00000682589.1:n.8953T>C | ||
| ENST00000682755.1:c.2854T>C | ENSP00000507660.1:p.Ser952Pro | |
| ENST00000682989.1:c.*167T>C | ENSP00000507786.1:n.*167T>C | |
| ENST00000683039.1:c.3076T>C | ENSP00000508303.1:p.Ser1026Pro | |
| ENST00000683235.1:c.*491T>C | ENSP00000507646.1:n.*491T>C | |
| ENST00000683535.1:n.1206T>C | ||
| ENST00000684584.1:c.2239T>C | ENSP00000508044.1:p.Ser747Pro | |
| ENST00000684626.1:n.1322T>C | ||
| ENST00000684769.1:c.1266T>C | ENSP00000507691.1:n.1266T>C | |
| ENST00000259008.7:c.3076T>C MANE Select | ENSP00000259008.2:p.Ser1026Pro | |
| ENST00000259008.6:c.3076T>C | ENSP00000259008.2:p.Ser1026Pro | |
| NM_032043.2:c.3076T>C , LRG_300t1:c.3076T>C | NP_114432.2:p.Ser1026Pro | |
| XM_011525332.1:c.3136T>C | XP_011523634.1:p.Ser1046Pro | |
| XM_011525333.1:c.3136T>C | XP_011523635.1:p.Ser1046Pro | |
| XM_011525334.1:c.3136T>C | XP_011523636.1:p.Ser1046Pro | |
| XM_011525335.1:c.3076T>C | XP_011523637.1:p.Ser1026Pro | |
| XM_011525336.1:c.3016T>C | XP_011523638.1:p.Ser1006Pro | |
| XM_011525337.1:c.2935T>C | XP_011523639.1:p.Ser979Pro | |
| XM_011525338.1:c.2653T>C | XP_011523640.1:p.Ser885Pro | |
| XM_011525332.3:c.3136T>C | XP_011523634.1:p.Ser1046Pro | |
| XM_011525333.3:c.3136T>C | XP_011523635.1:p.Ser1046Pro | |
| XM_011525334.2:c.3136T>C | XP_011523636.1:p.Ser1046Pro | |
| XM_011525335.3:c.3076T>C | XP_011523637.1:p.Ser1026Pro | |
| XM_011525336.2:c.3016T>C | XP_011523638.1:p.Ser1006Pro | |
| XM_011525337.2:c.2935T>C | XP_011523639.1:p.Ser979Pro | |
| XM_011525338.2:c.2653T>C | XP_011523640.1:p.Ser885Pro | |
| XM_017025200.1:c.2593T>C | XP_016880689.1:p.Ser865Pro | |
| XM_017025201.1:c.2593T>C | XP_016880690.1:p.Ser865Pro | |
| XM_017025202.1:c.1222T>C | XP_016880691.1:p.Ser408Pro | |
| XM_017025203.1:c.1222T>C | XP_016880692.1:p.Ser408Pro | |
| NM_032043.3:c.3076T>C MANE Select | NP_114432.2:p.Ser1026Pro |