Linked Data
ClinVar Variation Id:
219645
dbSNP Id:
rs778916092
ExAC:
17:59763301 A / G
gnomAD v2:
17-59763301-A-G
gnomAD v3:
17-61685940-A-G
gnomAD v4:
17-61685940-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685940A>G , CM000679.2:g.61685940A>G | GRCh38 |
| NC_000017.10:g.59763301A>G , CM000679.1:g.59763301A>G | GRCh37 |
| NC_000017.9:g.57118083A>G | NCBI36 |
| NG_007409.2:g.182620T>C , LRG_300:g.182620T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2931T>C | ENSP00000507191.1:n.2931T>C | |
| ENST00000682073.1:n.1541T>C | ||
| ENST00000682433.1:n.1880T>C | ||
| ENST00000682453.1:c.2801T>C | ENSP00000506943.1:p.Phe934Ser | |
| ENST00000682477.1:c.*2227T>C | ENSP00000507075.1:n.*2227T>C | |
| ENST00000682589.1:n.8678T>C | ||
| ENST00000682755.1:c.2579T>C | ENSP00000507660.1:p.Phe860Ser | |
| ENST00000682989.1:c.2610-1800T>C | ENSP00000507786.1:n.2610-1800T>C | |
| ENST00000683039.1:c.2801T>C | ENSP00000508303.1:p.Phe934Ser | |
| ENST00000683235.1:c.*216T>C | ENSP00000507646.1:n.*216T>C | |
| ENST00000683535.1:n.931T>C | ||
| ENST00000684471.1:n.1214T>C | ||
| ENST00000684584.1:c.2069-1800T>C | ENSP00000508044.1:n.2069-1800T>C | |
| ENST00000684626.1:n.1047T>C | ||
| ENST00000684769.1:c.991T>C | ENSP00000507691.1:n.991T>C | |
| ENST00000259008.7:c.2801T>C MANE Select | ENSP00000259008.2:p.Phe934Ser | |
| ENST00000259008.6:c.2801T>C | ENSP00000259008.2:p.Phe934Ser | |
| ENST00000577598.5:c.2801T>C | ENSP00000464654.1:p.Phe934Ser | |
| NM_032043.2:c.2801T>C , LRG_300t1:c.2801T>C | NP_114432.2:p.Phe934Ser | |
| XM_011525332.1:c.2861T>C | XP_011523634.1:p.Phe954Ser | |
| XM_011525333.1:c.2861T>C | XP_011523635.1:p.Phe954Ser | |
| XM_011525334.1:c.2861T>C | XP_011523636.1:p.Phe954Ser | |
| XM_011525335.1:c.2801T>C | XP_011523637.1:p.Phe934Ser | |
| XM_011525336.1:c.2741T>C | XP_011523638.1:p.Phe914Ser | |
| XM_011525337.1:c.2660T>C | XP_011523639.1:p.Phe887Ser | |
| XM_011525338.1:c.2378T>C | XP_011523640.1:p.Phe793Ser | |
| XM_011525332.3:c.2861T>C | XP_011523634.1:p.Phe954Ser | |
| XM_011525333.3:c.2861T>C | XP_011523635.1:p.Phe954Ser | |
| XM_011525334.2:c.2861T>C | XP_011523636.1:p.Phe954Ser | |
| XM_011525335.3:c.2801T>C | XP_011523637.1:p.Phe934Ser | |
| XM_011525336.2:c.2741T>C | XP_011523638.1:p.Phe914Ser | |
| XM_011525337.2:c.2660T>C | XP_011523639.1:p.Phe887Ser | |
| XM_011525338.2:c.2378T>C | XP_011523640.1:p.Phe793Ser | |
| XM_017025200.1:c.2318T>C | XP_016880689.1:p.Phe773Ser | |
| XM_017025201.1:c.2318T>C | XP_016880690.1:p.Phe773Ser | |
| XM_017025202.1:c.947T>C | XP_016880691.1:p.Phe316Ser | |
| XM_017025203.1:c.947T>C | XP_016880692.1:p.Phe316Ser | |
| NM_032043.3:c.2801T>C MANE Select | NP_114432.2:p.Phe934Ser |