Linked Data
ClinVar Variation Id:
186989
ClinVar RCV Id:
RCV000166662
RCV000198324
RCV000219026
RCV000662435
RCV000781167
RCV001798598
RCV003316056
dbSNP Id:
rs761405340
ExAC:
17:59760836 T / C
gnomAD v2:
17-59760836-T-C
gnomAD v3:
17-61683475-T-C
gnomAD v4:
17-61683475-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683475T>C , CM000679.2:g.61683475T>C | GRCh38 |
| NC_000017.10:g.59760836T>C , CM000679.1:g.59760836T>C | GRCh37 |
| NC_000017.9:g.57115618T>C | NCBI36 |
| NG_007409.2:g.185085A>G , LRG_300:g.185085A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2311A>G | ||
| ENST00000682453.1:c.3571A>G | ENSP00000506943.1:p.Ile1191Val | |
| ENST00000682477.1:c.*2997A>G | ENSP00000507075.1:n.*2997A>G | |
| ENST00000682589.1:n.9448A>G | ||
| ENST00000682755.1:c.3349A>G | ENSP00000507660.1:p.Ile1117Val | |
| ENST00000682989.1:c.*662A>G | ENSP00000507786.1:n.*662A>G | |
| ENST00000683039.1:c.3571A>G | ENSP00000508303.1:p.Ile1191Val | |
| ENST00000683235.1:c.*986A>G | ENSP00000507646.1:n.*986A>G | |
| ENST00000683535.1:n.1701A>G | ||
| ENST00000684584.1:c.2734A>G | ENSP00000508044.1:p.Ile912Val | |
| ENST00000684626.1:n.1817A>G | ||
| ENST00000684769.1:c.1761A>G | ENSP00000507691.1:n.1761A>G | |
| ENST00000259008.7:c.3571A>G MANE Select | ENSP00000259008.2:p.Ile1191Val | |
| ENST00000259008.6:c.3571A>G | ENSP00000259008.2:p.Ile1191Val | |
| NM_032043.2:c.3571A>G , LRG_300t1:c.3571A>G | NP_114432.2:p.Ile1191Val | |
| XM_011525332.1:c.3631A>G | XP_011523634.1:p.Ile1211Val | |
| XM_011525333.1:c.3631A>G | XP_011523635.1:p.Ile1211Val | |
| XM_011525334.1:c.3631A>G | XP_011523636.1:p.Ile1211Val | |
| XM_011525335.1:c.3571A>G | XP_011523637.1:p.Ile1191Val | |
| XM_011525336.1:c.3511A>G | XP_011523638.1:p.Ile1171Val | |
| XM_011525337.1:c.3430A>G | XP_011523639.1:p.Ile1144Val | |
| XM_011525338.1:c.3148A>G | XP_011523640.1:p.Ile1050Val | |
| XM_011525332.3:c.3631A>G | XP_011523634.1:p.Ile1211Val | |
| XM_011525333.3:c.3631A>G | XP_011523635.1:p.Ile1211Val | |
| XM_011525334.2:c.3631A>G | XP_011523636.1:p.Ile1211Val | |
| XM_011525335.3:c.3571A>G | XP_011523637.1:p.Ile1191Val | |
| XM_011525336.2:c.3511A>G | XP_011523638.1:p.Ile1171Val | |
| XM_011525337.2:c.3430A>G | XP_011523639.1:p.Ile1144Val | |
| XM_011525338.2:c.3148A>G | XP_011523640.1:p.Ile1050Val | |
| XM_017025200.1:c.3088A>G | XP_016880689.1:p.Ile1030Val | |
| XM_017025201.1:c.3088A>G | XP_016880690.1:p.Ile1030Val | |
| XM_017025202.1:c.1717A>G | XP_016880691.1:p.Ile573Val | |
| XM_017025203.1:c.1717A>G | XP_016880692.1:p.Ile573Val | |
| NM_032043.3:c.3571A>G MANE Select | NP_114432.2:p.Ile1191Val |