Linked Data
ClinVar Variation Id:
823147
dbSNP Id:
rs1567728809
gnomAD v2:
17-59761210-G-A
gnomAD v3:
17-61683849-G-A
gnomAD v4:
17-61683849-G-A
MyVariant Identifiers:
chr17:g.59761210G>A (hg19)
chr17:g.59761210_59761211delinsAA (hg19)
chr17:g.61683849G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683849G>A , CM000679.2:g.61683849G>A | GRCh38 |
| NC_000017.10:g.59761210G>A , CM000679.1:g.59761210G>A | GRCh37 |
| NC_000017.9:g.57115992G>A | NCBI36 |
| NG_007409.2:g.184711C>T , LRG_300:g.184711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1937C>T | ||
| ENST00000682453.1:c.3197C>T | ENSP00000506943.1:p.Ser1066Leu | |
| ENST00000682477.1:c.*2623C>T | ENSP00000507075.1:n.*2623C>T | |
| ENST00000682589.1:n.9074C>T | ||
| ENST00000682755.1:c.2975C>T | ENSP00000507660.1:p.Ser992Leu | |
| ENST00000682989.1:c.*288C>T | ENSP00000507786.1:n.*288C>T | |
| ENST00000683039.1:c.3197C>T | ENSP00000508303.1:p.Ser1066Leu | |
| ENST00000683235.1:c.*612C>T | ENSP00000507646.1:n.*612C>T | |
| ENST00000683535.1:n.1327C>T | ||
| ENST00000684584.1:c.2360C>T | ENSP00000508044.1:p.Ser787Leu | |
| ENST00000684626.1:n.1443C>T | ||
| ENST00000684769.1:c.1387C>T | ENSP00000507691.1:n.1387C>T | |
| ENST00000259008.7:c.3197C>T MANE Select | ENSP00000259008.2:p.Ser1066Leu | |
| ENST00000259008.6:c.3197C>T | ENSP00000259008.2:p.Ser1066Leu | |
| NM_032043.2:c.3197C>T , LRG_300t1:c.3197C>T | NP_114432.2:p.Ser1066Leu | |
| XM_011525332.1:c.3257C>T | XP_011523634.1:p.Ser1086Leu | |
| XM_011525333.1:c.3257C>T | XP_011523635.1:p.Ser1086Leu | |
| XM_011525334.1:c.3257C>T | XP_011523636.1:p.Ser1086Leu | |
| XM_011525335.1:c.3197C>T | XP_011523637.1:p.Ser1066Leu | |
| XM_011525336.1:c.3137C>T | XP_011523638.1:p.Ser1046Leu | |
| XM_011525337.1:c.3056C>T | XP_011523639.1:p.Ser1019Leu | |
| XM_011525338.1:c.2774C>T | XP_011523640.1:p.Ser925Leu | |
| XM_011525332.3:c.3257C>T | XP_011523634.1:p.Ser1086Leu | |
| XM_011525333.3:c.3257C>T | XP_011523635.1:p.Ser1086Leu | |
| XM_011525334.2:c.3257C>T | XP_011523636.1:p.Ser1086Leu | |
| XM_011525335.3:c.3197C>T | XP_011523637.1:p.Ser1066Leu | |
| XM_011525336.2:c.3137C>T | XP_011523638.1:p.Ser1046Leu | |
| XM_011525337.2:c.3056C>T | XP_011523639.1:p.Ser1019Leu | |
| XM_011525338.2:c.2774C>T | XP_011523640.1:p.Ser925Leu | |
| XM_017025200.1:c.2714C>T | XP_016880689.1:p.Ser905Leu | |
| XM_017025201.1:c.2714C>T | XP_016880690.1:p.Ser905Leu | |
| XM_017025202.1:c.1343C>T | XP_016880691.1:p.Ser448Leu | |
| XM_017025203.1:c.1343C>T | XP_016880692.1:p.Ser448Leu | |
| NM_032043.3:c.3197C>T MANE Select | NP_114432.2:p.Ser1066Leu |