Linked Data
ClinVar Variation Id:
136148
dbSNP Id:
rs188258913
ExAC:
17:59761365 A / G
gnomAD v2:
17-59761365-A-G
gnomAD v3:
17-61684004-A-G
gnomAD v4:
17-61684004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61684004A>G , CM000679.2:g.61684004A>G | GRCh38 |
| NC_000017.10:g.59761365A>G , CM000679.1:g.59761365A>G | GRCh37 |
| NC_000017.9:g.57116147A>G | NCBI36 |
| NG_007409.2:g.184556T>C , LRG_300:g.184556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1782T>C | ||
| ENST00000682453.1:c.3042T>C | ENSP00000506943.1:p.Gly1014= | |
| ENST00000682477.1:c.*2468T>C | ENSP00000507075.1:n.*2468T>C | |
| ENST00000682589.1:n.8919T>C | ||
| ENST00000682755.1:c.2820T>C | ENSP00000507660.1:p.Gly940= | |
| ENST00000682989.1:c.*133T>C | ENSP00000507786.1:n.*133T>C | |
| ENST00000683039.1:c.3042T>C | ENSP00000508303.1:p.Gly1014= | |
| ENST00000683235.1:c.*457T>C | ENSP00000507646.1:n.*457T>C | |
| ENST00000683535.1:n.1172T>C | ||
| ENST00000684584.1:c.2205T>C | ENSP00000508044.1:p.Gly735= | |
| ENST00000684626.1:n.1288T>C | ||
| ENST00000684769.1:c.1232T>C | ENSP00000507691.1:n.1232T>C | |
| ENST00000259008.7:c.3042T>C MANE Select | ENSP00000259008.2:p.Gly1014= | |
| ENST00000259008.6:c.3042T>C | ENSP00000259008.2:p.Gly1014= | |
| NM_032043.2:c.3042T>C , LRG_300t1:c.3042T>C | NP_114432.2:p.Gly1014= | |
| XM_011525332.1:c.3102T>C | XP_011523634.1:p.Gly1034= | |
| XM_011525333.1:c.3102T>C | XP_011523635.1:p.Gly1034= | |
| XM_011525334.1:c.3102T>C | XP_011523636.1:p.Gly1034= | |
| XM_011525335.1:c.3042T>C | XP_011523637.1:p.Gly1014= | |
| XM_011525336.1:c.2982T>C | XP_011523638.1:p.Gly994= | |
| XM_011525337.1:c.2901T>C | XP_011523639.1:p.Gly967= | |
| XM_011525338.1:c.2619T>C | XP_011523640.1:p.Gly873= | |
| XM_011525332.3:c.3102T>C | XP_011523634.1:p.Gly1034= | |
| XM_011525333.3:c.3102T>C | XP_011523635.1:p.Gly1034= | |
| XM_011525334.2:c.3102T>C | XP_011523636.1:p.Gly1034= | |
| XM_011525335.3:c.3042T>C | XP_011523637.1:p.Gly1014= | |
| XM_011525336.2:c.2982T>C | XP_011523638.1:p.Gly994= | |
| XM_011525337.2:c.2901T>C | XP_011523639.1:p.Gly967= | |
| XM_011525338.2:c.2619T>C | XP_011523640.1:p.Gly873= | |
| XM_017025200.1:c.2559T>C | XP_016880689.1:p.Gly853= | |
| XM_017025201.1:c.2559T>C | XP_016880690.1:p.Gly853= | |
| XM_017025202.1:c.1188T>C | XP_016880691.1:p.Gly396= | |
| XM_017025203.1:c.1188T>C | XP_016880692.1:p.Gly396= | |
| NM_032043.3:c.3042T>C MANE Select | NP_114432.2:p.Gly1014= |