Linked Data
ClinVar Variation Id:
530337
dbSNP Id:
rs771889454
ExAC:
17:59760914 T / G
gnomAD v2:
17-59760914-T-G
gnomAD v3:
17-61683553-T-G
gnomAD v4:
17-61683553-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683553T>G , CM000679.2:g.61683553T>G | GRCh38 |
| NC_000017.10:g.59760914T>G , CM000679.1:g.59760914T>G | GRCh37 |
| NC_000017.9:g.57115696T>G | NCBI36 |
| NG_007409.2:g.185007A>C , LRG_300:g.185007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2233A>C | ||
| ENST00000682453.1:c.3493A>C | ENSP00000506943.1:p.Ile1165Leu | |
| ENST00000682477.1:c.*2919A>C | ENSP00000507075.1:n.*2919A>C | |
| ENST00000682589.1:n.9370A>C | ||
| ENST00000682755.1:c.3271A>C | ENSP00000507660.1:p.Ile1091Leu | |
| ENST00000682989.1:c.*584A>C | ENSP00000507786.1:n.*584A>C | |
| ENST00000683039.1:c.3493A>C | ENSP00000508303.1:p.Ile1165Leu | |
| ENST00000683235.1:c.*908A>C | ENSP00000507646.1:n.*908A>C | |
| ENST00000683535.1:n.1623A>C | ||
| ENST00000684584.1:c.2656A>C | ENSP00000508044.1:p.Ile886Leu | |
| ENST00000684626.1:n.1739A>C | ||
| ENST00000684769.1:c.1683A>C | ENSP00000507691.1:n.1683A>C | |
| ENST00000259008.7:c.3493A>C MANE Select | ENSP00000259008.2:p.Ile1165Leu | |
| ENST00000259008.6:c.3493A>C | ENSP00000259008.2:p.Ile1165Leu | |
| NM_032043.2:c.3493A>C , LRG_300t1:c.3493A>C | NP_114432.2:p.Ile1165Leu | |
| XM_011525332.1:c.3553A>C | XP_011523634.1:p.Ile1185Leu | |
| XM_011525333.1:c.3553A>C | XP_011523635.1:p.Ile1185Leu | |
| XM_011525334.1:c.3553A>C | XP_011523636.1:p.Ile1185Leu | |
| XM_011525335.1:c.3493A>C | XP_011523637.1:p.Ile1165Leu | |
| XM_011525336.1:c.3433A>C | XP_011523638.1:p.Ile1145Leu | |
| XM_011525337.1:c.3352A>C | XP_011523639.1:p.Ile1118Leu | |
| XM_011525338.1:c.3070A>C | XP_011523640.1:p.Ile1024Leu | |
| XM_011525332.3:c.3553A>C | XP_011523634.1:p.Ile1185Leu | |
| XM_011525333.3:c.3553A>C | XP_011523635.1:p.Ile1185Leu | |
| XM_011525334.2:c.3553A>C | XP_011523636.1:p.Ile1185Leu | |
| XM_011525335.3:c.3493A>C | XP_011523637.1:p.Ile1165Leu | |
| XM_011525336.2:c.3433A>C | XP_011523638.1:p.Ile1145Leu | |
| XM_011525337.2:c.3352A>C | XP_011523639.1:p.Ile1118Leu | |
| XM_011525338.2:c.3070A>C | XP_011523640.1:p.Ile1024Leu | |
| XM_017025200.1:c.3010A>C | XP_016880689.1:p.Ile1004Leu | |
| XM_017025201.1:c.3010A>C | XP_016880690.1:p.Ile1004Leu | |
| XM_017025202.1:c.1639A>C | XP_016880691.1:p.Ile547Leu | |
| XM_017025203.1:c.1639A>C | XP_016880692.1:p.Ile547Leu | |
| NM_032043.3:c.3493A>C MANE Select | NP_114432.2:p.Ile1165Leu |