Linked Data
ClinVar Variation Id:
186266
dbSNP Id:
rs772709195
ExAC:
17:59761111 A / C
gnomAD v2:
17-59761111-A-C
gnomAD v3:
17-61683750-A-C
gnomAD v4:
17-61683750-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683750A>C , CM000679.2:g.61683750A>C | GRCh38 |
| NC_000017.10:g.59761111A>C , CM000679.1:g.59761111A>C | GRCh37 |
| NC_000017.9:g.57115893A>C | NCBI36 |
| NG_007409.2:g.184810T>G , LRG_300:g.184810T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2036T>G | ||
| ENST00000682453.1:c.3296T>G | ENSP00000506943.1:p.Leu1099Arg | |
| ENST00000682477.1:c.*2722T>G | ENSP00000507075.1:n.*2722T>G | |
| ENST00000682589.1:n.9173T>G | ||
| ENST00000682755.1:c.3074T>G | ENSP00000507660.1:p.Leu1025Arg | |
| ENST00000682989.1:c.*387T>G | ENSP00000507786.1:n.*387T>G | |
| ENST00000683039.1:c.3296T>G | ENSP00000508303.1:p.Leu1099Arg | |
| ENST00000683235.1:c.*711T>G | ENSP00000507646.1:n.*711T>G | |
| ENST00000683535.1:n.1426T>G | ||
| ENST00000684584.1:c.2459T>G | ENSP00000508044.1:p.Leu820Arg | |
| ENST00000684626.1:n.1542T>G | ||
| ENST00000684769.1:c.1486T>G | ENSP00000507691.1:n.1486T>G | |
| ENST00000259008.7:c.3296T>G MANE Select | ENSP00000259008.2:p.Leu1099Arg | |
| ENST00000259008.6:c.3296T>G | ENSP00000259008.2:p.Leu1099Arg | |
| NM_032043.2:c.3296T>G , LRG_300t1:c.3296T>G | NP_114432.2:p.Leu1099Arg | |
| XM_011525332.1:c.3356T>G | XP_011523634.1:p.Leu1119Arg | |
| XM_011525333.1:c.3356T>G | XP_011523635.1:p.Leu1119Arg | |
| XM_011525334.1:c.3356T>G | XP_011523636.1:p.Leu1119Arg | |
| XM_011525335.1:c.3296T>G | XP_011523637.1:p.Leu1099Arg | |
| XM_011525336.1:c.3236T>G | XP_011523638.1:p.Leu1079Arg | |
| XM_011525337.1:c.3155T>G | XP_011523639.1:p.Leu1052Arg | |
| XM_011525338.1:c.2873T>G | XP_011523640.1:p.Leu958Arg | |
| XM_011525332.3:c.3356T>G | XP_011523634.1:p.Leu1119Arg | |
| XM_011525333.3:c.3356T>G | XP_011523635.1:p.Leu1119Arg | |
| XM_011525334.2:c.3356T>G | XP_011523636.1:p.Leu1119Arg | |
| XM_011525335.3:c.3296T>G | XP_011523637.1:p.Leu1099Arg | |
| XM_011525336.2:c.3236T>G | XP_011523638.1:p.Leu1079Arg | |
| XM_011525337.2:c.3155T>G | XP_011523639.1:p.Leu1052Arg | |
| XM_011525338.2:c.2873T>G | XP_011523640.1:p.Leu958Arg | |
| XM_017025200.1:c.2813T>G | XP_016880689.1:p.Leu938Arg | |
| XM_017025201.1:c.2813T>G | XP_016880690.1:p.Leu938Arg | |
| XM_017025202.1:c.1442T>G | XP_016880691.1:p.Leu481Arg | |
| XM_017025203.1:c.1442T>G | XP_016880692.1:p.Leu481Arg | |
| NM_032043.3:c.3296T>G MANE Select | NP_114432.2:p.Leu1099Arg |