Linked Data
ClinVar Variation Id:
2942807
ClinVar RCV Id:
RCV003807973
dbSNP Id:
rs1298345650
gnomAD v2:
17-59820440-G-C
gnomAD v4:
17-61743079-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743079G>C , CM000679.2:g.61743079G>C | GRCh38 |
| NC_000017.10:g.59820440G>C , CM000679.1:g.59820440G>C | GRCh37 |
| NC_000017.9:g.57175222G>C | NCBI36 |
| NG_007409.2:g.125481C>G , LRG_300:g.125481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2313C>G | ENSP00000463272.2:p.Phe771Leu | |
| ENST00000682066.1:c.2443C>G | ENSP00000507191.1:n.2443C>G | |
| ENST00000682073.1:n.1053C>G | ||
| ENST00000682433.1:n.1392C>G | ||
| ENST00000682453.1:c.2313C>G | ENSP00000506943.1:p.Phe771Leu | |
| ENST00000682477.1:c.*1739C>G | ENSP00000507075.1:n.*1739C>G | |
| ENST00000682589.1:n.8190C>G | ||
| ENST00000682755.1:c.2091C>G | ENSP00000507660.1:p.Phe697Leu | |
| ENST00000682989.1:c.2313C>G | ENSP00000507786.1:p.Phe771Leu | |
| ENST00000683039.1:c.2313C>G | ENSP00000508303.1:p.Phe771Leu | |
| ENST00000683235.1:c.2313C>G | ENSP00000507646.1:p.Phe771Leu | |
| ENST00000683381.1:c.2373C>G | ENSP00000508184.1:p.Phe791Leu | |
| ENST00000683535.1:n.443C>G | ||
| ENST00000684471.1:n.726C>G | ||
| ENST00000684584.1:c.1806C>G | ENSP00000508044.1:p.Phe602Leu | |
| ENST00000684769.1:c.378C>G | ENSP00000507691.1:p.Phe126Leu | |
| ENST00000259008.7:c.2313C>G MANE Select | ENSP00000259008.2:p.Phe771Leu | |
| ENST00000259008.6:c.2313C>G | ENSP00000259008.2:p.Phe771Leu | |
| ENST00000577598.5:c.2313C>G | ENSP00000464654.1:p.Phe771Leu | |
| ENST00000584322.1:c.296C>G | ||
| NM_032043.2:c.2313C>G , LRG_300t1:c.2313C>G | NP_114432.2:p.Phe771Leu | |
| XM_011525332.1:c.2373C>G | XP_011523634.1:p.Phe791Leu | |
| XM_011525333.1:c.2373C>G | XP_011523635.1:p.Phe791Leu | |
| XM_011525334.1:c.2373C>G | XP_011523636.1:p.Phe791Leu | |
| XM_011525335.1:c.2313C>G | XP_011523637.1:p.Phe771Leu | |
| XM_011525336.1:c.2253C>G | XP_011523638.1:p.Phe751Leu | |
| XM_011525337.1:c.2172C>G | XP_011523639.1:p.Phe724Leu | |
| XM_011525338.1:c.1890C>G | XP_011523640.1:p.Phe630Leu | |
| XM_011525339.1:c.2373C>G | XP_011523641.1:p.Phe791Leu | |
| XM_011525340.1:c.2373C>G | XP_011523642.1:p.Phe791Leu | |
| XR_934894.1:n.524-1102G>C | ||
| XM_011525332.3:c.2373C>G | XP_011523634.1:p.Phe791Leu | |
| XM_011525333.3:c.2373C>G | XP_011523635.1:p.Phe791Leu | |
| XM_011525334.2:c.2373C>G | XP_011523636.1:p.Phe791Leu | |
| XM_011525335.3:c.2313C>G | XP_011523637.1:p.Phe771Leu | |
| XM_011525336.2:c.2253C>G | XP_011523638.1:p.Phe751Leu | |
| XM_011525337.2:c.2172C>G | XP_011523639.1:p.Phe724Leu | |
| XM_011525338.2:c.1890C>G | XP_011523640.1:p.Phe630Leu | |
| XM_011525339.3:c.2373C>G | XP_011523641.1:p.Phe791Leu | |
| XM_011525340.3:c.2373C>G | XP_011523642.1:p.Phe791Leu | |
| XM_017025200.1:c.1830C>G | XP_016880689.1:p.Phe610Leu | |
| XM_017025201.1:c.1830C>G | XP_016880690.1:p.Phe610Leu | |
| XM_017025202.1:c.459C>G | XP_016880691.1:p.Phe153Leu | |
| XM_017025203.1:c.459C>G | XP_016880692.1:p.Phe153Leu | |
| NM_032043.3:c.2313C>G MANE Select | NP_114432.2:p.Phe771Leu |