Linked Data
ClinVar Variation Id:
142732
dbSNP Id:
rs587782679
ExAC:
17:59763200 T / C
gnomAD v2:
17-59763200-T-C
gnomAD v3:
17-61685839-T-C
gnomAD v4:
17-61685839-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685839T>C , CM000679.2:g.61685839T>C | GRCh38 |
| NC_000017.10:g.59763200T>C , CM000679.1:g.59763200T>C | GRCh37 |
| NC_000017.9:g.57117982T>C | NCBI36 |
| NG_007409.2:g.182721A>G , LRG_300:g.182721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.3032A>G | ENSP00000507191.1:n.3032A>G | |
| ENST00000682073.1:n.1642A>G | ||
| ENST00000682433.1:n.1981A>G | ||
| ENST00000682453.1:c.2902A>G | ENSP00000506943.1:p.Lys968Glu | |
| ENST00000682477.1:c.*2328A>G | ENSP00000507075.1:n.*2328A>G | |
| ENST00000682589.1:n.8779A>G | ||
| ENST00000682755.1:c.2680A>G | ENSP00000507660.1:p.Lys894Glu | |
| ENST00000682989.1:c.2610-1699A>G | ENSP00000507786.1:n.2610-1699A>G | |
| ENST00000683039.1:c.2902A>G | ENSP00000508303.1:p.Lys968Glu | |
| ENST00000683235.1:c.*317A>G | ENSP00000507646.1:n.*317A>G | |
| ENST00000683535.1:n.1032A>G | ||
| ENST00000684471.1:n.1315A>G | ||
| ENST00000684584.1:c.2069-1699A>G | ENSP00000508044.1:n.2069-1699A>G | |
| ENST00000684626.1:n.1148A>G | ||
| ENST00000684769.1:c.1092A>G | ENSP00000507691.1:n.1092A>G | |
| ENST00000259008.7:c.2902A>G MANE Select | ENSP00000259008.2:p.Lys968Glu | |
| ENST00000259008.6:c.2902A>G | ENSP00000259008.2:p.Lys968Glu | |
| ENST00000577598.5:c.2902A>G | ENSP00000464654.1:p.Lys968Glu | |
| NM_032043.2:c.2902A>G , LRG_300t1:c.2902A>G | NP_114432.2:p.Lys968Glu | |
| XM_011525332.1:c.2962A>G | XP_011523634.1:p.Lys988Glu | |
| XM_011525333.1:c.2962A>G | XP_011523635.1:p.Lys988Glu | |
| XM_011525334.1:c.2962A>G | XP_011523636.1:p.Lys988Glu | |
| XM_011525335.1:c.2902A>G | XP_011523637.1:p.Lys968Glu | |
| XM_011525336.1:c.2842A>G | XP_011523638.1:p.Lys948Glu | |
| XM_011525337.1:c.2761A>G | XP_011523639.1:p.Lys921Glu | |
| XM_011525338.1:c.2479A>G | XP_011523640.1:p.Lys827Glu | |
| XM_011525332.3:c.2962A>G | XP_011523634.1:p.Lys988Glu | |
| XM_011525333.3:c.2962A>G | XP_011523635.1:p.Lys988Glu | |
| XM_011525334.2:c.2962A>G | XP_011523636.1:p.Lys988Glu | |
| XM_011525335.3:c.2902A>G | XP_011523637.1:p.Lys968Glu | |
| XM_011525336.2:c.2842A>G | XP_011523638.1:p.Lys948Glu | |
| XM_011525337.2:c.2761A>G | XP_011523639.1:p.Lys921Glu | |
| XM_011525338.2:c.2479A>G | XP_011523640.1:p.Lys827Glu | |
| XM_017025200.1:c.2419A>G | XP_016880689.1:p.Lys807Glu | |
| XM_017025201.1:c.2419A>G | XP_016880690.1:p.Lys807Glu | |
| XM_017025202.1:c.1048A>G | XP_016880691.1:p.Lys350Glu | |
| XM_017025203.1:c.1048A>G | XP_016880692.1:p.Lys350Glu | |
| NM_032043.3:c.2902A>G MANE Select | NP_114432.2:p.Lys968Glu |