Linked Data
ClinVar Variation Id:
461167
dbSNP Id:
rs748143260
ExAC:
17:59926624 T / C
gnomAD v3:
17-61849263-T-C
gnomAD v4:
17-61849263-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61849263T>C , CM000679.2:g.61849263T>C | GRCh38 |
| NC_000017.10:g.59926624T>C , CM000679.1:g.59926624T>C | GRCh37 |
| NC_000017.9:g.57281406T>C | NCBI36 |
| NG_007409.2:g.19297A>G , LRG_300:g.19297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577913.2:c.380-7A>G | ENSP00000462274.2:n.380-7A>G | |
| ENST00000584322.2:c.380-7A>G | ENSP00000463272.2:n.380-7A>G | |
| ENST00000682369.1:c.380-7A>G | ENSP00000507450.1:n.380-7A>G | |
| ENST00000682453.1:c.380-7A>G | ENSP00000506943.1:n.380-7A>G | |
| ENST00000682477.1:c.380-7A>G | ENSP00000507075.1:n.380-7A>G | |
| ENST00000682589.1:n.2121-7A>G | ||
| ENST00000682755.1:c.380-7A>G | ENSP00000507660.1:n.380-7A>G | |
| ENST00000682989.1:c.380-7A>G | ENSP00000507786.1:n.380-7A>G | |
| ENST00000683039.1:c.380-7A>G | ENSP00000508303.1:n.380-7A>G | |
| ENST00000683235.1:c.380-7A>G | ENSP00000507646.1:n.380-7A>G | |
| ENST00000683381.1:c.380-7A>G | ENSP00000508184.1:n.380-7A>G | |
| ENST00000683672.1:c.83-2043A>G | ENSP00000506781.1:n.83-2043A>G | |
| ENST00000259008.7:c.380-7A>G MANE Select | ENSP00000259008.2:n.380-7A>G | |
| ENST00000259008.6:c.380-7A>G | ENSP00000259008.2:n.380-7A>G | |
| ENST00000577598.5:c.380-7A>G | ENSP00000464654.1:n.380-7A>G | |
| NM_032043.2:c.380-7A>G , LRG_300t1:c.380-7A>G | NP_114432.2:n.380-7A>G | |
| XM_011525332.1:c.380-7A>G | XP_011523634.1:n.380-7A>G | |
| XM_011525333.1:c.380-7A>G | XP_011523635.1:n.380-7A>G | |
| XM_011525334.1:c.380-7A>G | XP_011523636.1:n.380-7A>G | |
| XM_011525335.1:c.380-7A>G | XP_011523637.1:n.380-7A>G | |
| XM_011525336.1:c.380-7A>G | XP_011523638.1:n.380-7A>G | |
| XM_011525337.1:c.380-7A>G | XP_011523639.1:n.380-7A>G | |
| XM_011525338.1:c.25-2043A>G | XP_011523640.1:n.25-2043A>G | |
| XM_011525339.1:c.380-7A>G | XP_011523641.1:n.380-7A>G | |
| XM_011525340.1:c.380-7A>G | XP_011523642.1:n.380-7A>G | |
| XM_011525341.1:c.380-7A>G | XP_011523643.1:n.380-7A>G | |
| XM_011525332.3:c.380-7A>G | XP_011523634.1:n.380-7A>G | |
| XM_011525333.3:c.380-7A>G | XP_011523635.1:n.380-7A>G | |
| XM_011525334.2:c.380-7A>G | XP_011523636.1:n.380-7A>G | |
| XM_011525335.3:c.380-7A>G | XP_011523637.1:n.380-7A>G | |
| XM_011525336.2:c.380-7A>G | XP_011523638.1:n.380-7A>G | |
| XM_011525337.2:c.380-7A>G | XP_011523639.1:n.380-7A>G | |
| XM_011525338.2:c.25-2043A>G | XP_011523640.1:n.25-2043A>G | |
| XM_011525339.3:c.380-7A>G | XP_011523641.1:n.380-7A>G | |
| XM_011525340.3:c.380-7A>G | XP_011523642.1:n.380-7A>G | |
| XM_011525341.3:c.380-7A>G | XP_011523643.1:n.380-7A>G | |
| XM_017025200.1:c.25-2043A>G | XP_016880689.1:n.25-2043A>G | |
| NM_032043.3:c.380-7A>G MANE Select | NP_114432.2:n.380-7A>G |