Linked Data
ClinVar Variation Id:
142343
ClinVar RCV Id:
RCV000131417
RCV000205848
RCV000254652
RCV000588697
RCV001270930
RCV002272137
RCV003155923
RCV003335124
dbSNP Id:
rs574552037
ExAC:
17:59793404 G / C
gnomAD v2:
17-59793404-G-C
gnomAD v3:
17-61716043-G-C
gnomAD v4:
17-61716043-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61716043G>C , CM000679.2:g.61716043G>C | GRCh38 |
| NC_000017.10:g.59793404G>C , CM000679.1:g.59793404G>C | GRCh37 |
| NC_000017.9:g.57148186G>C | NCBI36 |
| NG_007409.2:g.152517C>G , LRG_300:g.152517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2530C>G | ENSP00000507191.1:n.2530C>G | |
| ENST00000682073.1:n.1140C>G | ||
| ENST00000682433.1:n.1479C>G | ||
| ENST00000682453.1:c.2400C>G | ENSP00000506943.1:p.Tyr800Ter | |
| ENST00000682477.1:c.*1826C>G | ENSP00000507075.1:n.*1826C>G | |
| ENST00000682589.1:n.8277C>G | ||
| ENST00000682755.1:c.2178C>G | ENSP00000507660.1:p.Tyr726Ter | |
| ENST00000682989.1:c.2400C>G | ENSP00000507786.1:p.Tyr800Ter | |
| ENST00000683039.1:c.2400C>G | ENSP00000508303.1:p.Tyr800Ter | |
| ENST00000683235.1:c.2400C>G | ENSP00000507646.1:p.Tyr800Ter | |
| ENST00000683535.1:n.530C>G | ||
| ENST00000684471.1:n.813C>G | ||
| ENST00000684584.1:c.1893C>G | ENSP00000508044.1:p.Tyr631Ter | |
| ENST00000684626.1:n.729C>G | ||
| ENST00000684769.1:c.465C>G | ENSP00000507691.1:p.Tyr155Ter | |
| ENST00000259008.7:c.2400C>G MANE Select | ENSP00000259008.2:p.Tyr800Ter | |
| ENST00000259008.6:c.2400C>G | ENSP00000259008.2:p.Tyr800Ter | |
| ENST00000577598.5:c.2400C>G | ENSP00000464654.1:p.Tyr800Ter | |
| NM_032043.2:c.2400C>G , LRG_300t1:c.2400C>G | NP_114432.2:p.Tyr800Ter | |
| XM_011525332.1:c.2460C>G | XP_011523634.1:p.Tyr820Ter | |
| XM_011525333.1:c.2460C>G | XP_011523635.1:p.Tyr820Ter | |
| XM_011525334.1:c.2460C>G | XP_011523636.1:p.Tyr820Ter | |
| XM_011525335.1:c.2400C>G | XP_011523637.1:p.Tyr800Ter | |
| XM_011525336.1:c.2340C>G | XP_011523638.1:p.Tyr780Ter | |
| XM_011525337.1:c.2259C>G | XP_011523639.1:p.Tyr753Ter | |
| XM_011525338.1:c.1977C>G | XP_011523640.1:p.Tyr659Ter | |
| XM_011525339.1:c.*41C>G | XP_011523641.1:n.*41C>G | |
| XM_011525340.1:c.2460C>G | XP_011523642.1:p.Tyr820Ter | |
| XM_011525332.3:c.2460C>G | XP_011523634.1:p.Tyr820Ter | |
| XM_011525333.3:c.2460C>G | XP_011523635.1:p.Tyr820Ter | |
| XM_011525334.2:c.2460C>G | XP_011523636.1:p.Tyr820Ter | |
| XM_011525335.3:c.2400C>G | XP_011523637.1:p.Tyr800Ter | |
| XM_011525336.2:c.2340C>G | XP_011523638.1:p.Tyr780Ter | |
| XM_011525337.2:c.2259C>G | XP_011523639.1:p.Tyr753Ter | |
| XM_011525338.2:c.1977C>G | XP_011523640.1:p.Tyr659Ter | |
| XM_011525339.3:c.*41C>G | XP_011523641.1:n.*41C>G | |
| XM_011525340.3:c.2460C>G | XP_011523642.1:p.Tyr820Ter | |
| XM_017025200.1:c.1917C>G | XP_016880689.1:p.Tyr639Ter | |
| XM_017025201.1:c.1917C>G | XP_016880690.1:p.Tyr639Ter | |
| XM_017025202.1:c.546C>G | XP_016880691.1:p.Tyr182Ter | |
| XM_017025203.1:c.546C>G | XP_016880692.1:p.Tyr182Ter | |
| NM_032043.3:c.2400C>G MANE Select | NP_114432.2:p.Tyr800Ter |