Linked Data
ClinVar Variation Id:
530368
dbSNP Id:
rs61754142
gnomAD v2:
17-59761338-G-C
gnomAD v3:
17-61683977-G-C
gnomAD v4:
17-61683977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683977G>C , CM000679.2:g.61683977G>C | GRCh38 |
| NC_000017.10:g.59761338G>C , CM000679.1:g.59761338G>C | GRCh37 |
| NC_000017.9:g.57116120G>C | NCBI36 |
| NG_007409.2:g.184583C>G , LRG_300:g.184583C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1809C>G | ||
| ENST00000682453.1:c.3069C>G | ENSP00000506943.1:p.Leu1023= | |
| ENST00000682477.1:c.*2495C>G | ENSP00000507075.1:n.*2495C>G | |
| ENST00000682589.1:n.8946C>G | ||
| ENST00000682755.1:c.2847C>G | ENSP00000507660.1:p.Leu949= | |
| ENST00000682989.1:c.*160C>G | ENSP00000507786.1:n.*160C>G | |
| ENST00000683039.1:c.3069C>G | ENSP00000508303.1:p.Leu1023= | |
| ENST00000683235.1:c.*484C>G | ENSP00000507646.1:n.*484C>G | |
| ENST00000683535.1:n.1199C>G | ||
| ENST00000684584.1:c.2232C>G | ENSP00000508044.1:p.Leu744= | |
| ENST00000684626.1:n.1315C>G | ||
| ENST00000684769.1:c.1259C>G | ENSP00000507691.1:n.1259C>G | |
| ENST00000259008.7:c.3069C>G MANE Select | ENSP00000259008.2:p.Leu1023= | |
| ENST00000259008.6:c.3069C>G | ENSP00000259008.2:p.Leu1023= | |
| NM_032043.2:c.3069C>G , LRG_300t1:c.3069C>G | NP_114432.2:p.Leu1023= | |
| XM_011525332.1:c.3129C>G | XP_011523634.1:p.Leu1043= | |
| XM_011525333.1:c.3129C>G | XP_011523635.1:p.Leu1043= | |
| XM_011525334.1:c.3129C>G | XP_011523636.1:p.Leu1043= | |
| XM_011525335.1:c.3069C>G | XP_011523637.1:p.Leu1023= | |
| XM_011525336.1:c.3009C>G | XP_011523638.1:p.Leu1003= | |
| XM_011525337.1:c.2928C>G | XP_011523639.1:p.Leu976= | |
| XM_011525338.1:c.2646C>G | XP_011523640.1:p.Leu882= | |
| XM_011525332.3:c.3129C>G | XP_011523634.1:p.Leu1043= | |
| XM_011525333.3:c.3129C>G | XP_011523635.1:p.Leu1043= | |
| XM_011525334.2:c.3129C>G | XP_011523636.1:p.Leu1043= | |
| XM_011525335.3:c.3069C>G | XP_011523637.1:p.Leu1023= | |
| XM_011525336.2:c.3009C>G | XP_011523638.1:p.Leu1003= | |
| XM_011525337.2:c.2928C>G | XP_011523639.1:p.Leu976= | |
| XM_011525338.2:c.2646C>G | XP_011523640.1:p.Leu882= | |
| XM_017025200.1:c.2586C>G | XP_016880689.1:p.Leu862= | |
| XM_017025201.1:c.2586C>G | XP_016880690.1:p.Leu862= | |
| XM_017025202.1:c.1215C>G | XP_016880691.1:p.Leu405= | |
| XM_017025203.1:c.1215C>G | XP_016880692.1:p.Leu405= | |
| NM_032043.3:c.3069C>G MANE Select | NP_114432.2:p.Leu1023= |