Linked Data
ClinVar Variation Id:
628105
ClinVar RCV Id:
RCV000772410
dbSNP Id:
rs747568830
gnomAD v4:
17-61743062-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743062C>G , CM000679.2:g.61743062C>G | GRCh38 |
| NC_000017.10:g.59820423C>G , CM000679.1:g.59820423C>G | GRCh37 |
| NC_000017.9:g.57175205C>G | NCBI36 |
| NG_007409.2:g.125498G>C , LRG_300:g.125498G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000584322.2:c.2330G>C | ENSP00000463272.2:p.Arg777Pro | |
| ENST00000682066.1:c.2460G>C | ENSP00000507191.1:n.2460G>C | |
| ENST00000682073.1:n.1070G>C | ||
| ENST00000682433.1:n.1409G>C | ||
| ENST00000682453.1:c.2330G>C | ENSP00000506943.1:p.Arg777Pro | |
| ENST00000682477.1:c.*1756G>C | ENSP00000507075.1:n.*1756G>C | |
| ENST00000682589.1:n.8207G>C | ||
| ENST00000682755.1:c.2108G>C | ENSP00000507660.1:p.Arg703Pro | |
| ENST00000682989.1:c.2330G>C | ENSP00000507786.1:p.Arg777Pro | |
| ENST00000683039.1:c.2330G>C | ENSP00000508303.1:p.Arg777Pro | |
| ENST00000683235.1:c.2330G>C | ENSP00000507646.1:p.Arg777Pro | |
| ENST00000683381.1:c.2390G>C | ENSP00000508184.1:p.Arg797Pro | |
| ENST00000683535.1:n.460G>C | ||
| ENST00000684471.1:n.743G>C | ||
| ENST00000684584.1:c.1823G>C | ENSP00000508044.1:p.Arg608Pro | |
| ENST00000684769.1:c.395G>C | ENSP00000507691.1:p.Arg132Pro | |
| ENST00000259008.7:c.2330G>C MANE Select | ENSP00000259008.2:p.Arg777Pro | |
| ENST00000259008.6:c.2330G>C | ENSP00000259008.2:p.Arg777Pro | |
| ENST00000577598.5:c.2330G>C | ENSP00000464654.1:p.Arg777Pro | |
| ENST00000584322.1:c.313G>C | ||
| NM_032043.2:c.2330G>C , LRG_300t1:c.2330G>C | NP_114432.2:p.Arg777Pro | |
| XM_011525332.1:c.2390G>C | XP_011523634.1:p.Arg797Pro | |
| XM_011525333.1:c.2390G>C | XP_011523635.1:p.Arg797Pro | |
| XM_011525334.1:c.2390G>C | XP_011523636.1:p.Arg797Pro | |
| XM_011525335.1:c.2330G>C | XP_011523637.1:p.Arg777Pro | |
| XM_011525336.1:c.2270G>C | XP_011523638.1:p.Arg757Pro | |
| XM_011525337.1:c.2189G>C | XP_011523639.1:p.Arg730Pro | |
| XM_011525338.1:c.1907G>C | XP_011523640.1:p.Arg636Pro | |
| XM_011525339.1:c.2390G>C | XP_011523641.1:p.Arg797Pro | |
| XM_011525340.1:c.2390G>C | XP_011523642.1:p.Arg797Pro | |
| XR_934894.1:n.524-1119C>G | ||
| XM_011525332.3:c.2390G>C | XP_011523634.1:p.Arg797Pro | |
| XM_011525333.3:c.2390G>C | XP_011523635.1:p.Arg797Pro | |
| XM_011525334.2:c.2390G>C | XP_011523636.1:p.Arg797Pro | |
| XM_011525335.3:c.2330G>C | XP_011523637.1:p.Arg777Pro | |
| XM_011525336.2:c.2270G>C | XP_011523638.1:p.Arg757Pro | |
| XM_011525337.2:c.2189G>C | XP_011523639.1:p.Arg730Pro | |
| XM_011525338.2:c.1907G>C | XP_011523640.1:p.Arg636Pro | |
| XM_011525339.3:c.2390G>C | XP_011523641.1:p.Arg797Pro | |
| XM_011525340.3:c.2390G>C | XP_011523642.1:p.Arg797Pro | |
| XM_017025200.1:c.1847G>C | XP_016880689.1:p.Arg616Pro | |
| XM_017025201.1:c.1847G>C | XP_016880690.1:p.Arg616Pro | |
| XM_017025202.1:c.476G>C | XP_016880691.1:p.Arg159Pro | |
| XM_017025203.1:c.476G>C | XP_016880692.1:p.Arg159Pro | |
| NM_032043.3:c.2330G>C MANE Select | NP_114432.2:p.Arg777Pro |