Linked Data
ClinVar Variation Id:
136143
ClinVar RCV Id:
RCV000123349
RCV000411739
RCV000411067
RCV000580346
RCV001818297
RCV001618289
RCV003315825
dbSNP Id:
rs587780827
ExAC:
17:59870952 T / C
gnomAD v2:
17-59870952-T-C
gnomAD v3:
17-61793591-T-C
gnomAD v4:
17-61793591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61793591T>C , CM000679.2:g.61793591T>C | GRCh38 |
| NC_000017.10:g.59870952T>C , CM000679.1:g.59870952T>C | GRCh37 |
| NC_000017.9:g.57225734T>C | NCBI36 |
| NG_007409.2:g.74969A>G , LRG_300:g.74969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.966+6A>G | ENSP00000463827.2:n.966+6A>G | |
| ENST00000584322.2:c.1473+6A>G | ENSP00000463272.2:n.1473+6A>G | |
| ENST00000682066.1:c.966+6A>G | ENSP00000507191.1:n.966+6A>G | |
| ENST00000682453.1:c.1473+6A>G | ENSP00000506943.1:n.1473+6A>G | |
| ENST00000682477.1:c.*899+6A>G | ENSP00000507075.1:n.*899+6A>G | |
| ENST00000682589.1:n.3214+6A>G | ||
| ENST00000682611.1:c.966+6A>G | ENSP00000508326.1:n.966+6A>G | |
| ENST00000682755.1:c.1251+6A>G | ENSP00000507660.1:n.1251+6A>G | |
| ENST00000682989.1:c.1473+6A>G | ENSP00000507786.1:n.1473+6A>G | |
| ENST00000683039.1:c.1473+6A>G | ENSP00000508303.1:n.1473+6A>G | |
| ENST00000683235.1:c.1473+6A>G | ENSP00000507646.1:n.1473+6A>G | |
| ENST00000683381.1:c.1473+6A>G | ENSP00000508184.1:n.1473+6A>G | |
| ENST00000684584.1:c.966+6A>G | ENSP00000508044.1:n.966+6A>G | |
| ENST00000259008.7:c.1473+6A>G MANE Select | ENSP00000259008.2:n.1473+6A>G | |
| ENST00000259008.6:c.1473+6A>G | ENSP00000259008.2:n.1473+6A>G | |
| ENST00000577598.5:c.1473+6A>G | ENSP00000464654.1:n.1473+6A>G | |
| ENST00000579028.1:c.77+6A>G | ||
| NM_032043.2:c.1473+6A>G , LRG_300t1:c.1473+6A>G | NP_114432.2:n.1473+6A>G | |
| XM_011525332.1:c.1473+6A>G | XP_011523634.1:n.1473+6A>G | |
| XM_011525333.1:c.1473+6A>G | XP_011523635.1:n.1473+6A>G | |
| XM_011525334.1:c.1473+6A>G | XP_011523636.1:n.1473+6A>G | |
| XM_011525335.1:c.1473+6A>G | XP_011523637.1:n.1473+6A>G | |
| XM_011525336.1:c.1473+6A>G | XP_011523638.1:n.1473+6A>G | |
| XM_011525337.1:c.1473+6A>G | XP_011523639.1:n.1473+6A>G | |
| XM_011525338.1:c.990+6A>G | XP_011523640.1:n.990+6A>G | |
| XM_011525339.1:c.1473+6A>G | XP_011523641.1:n.1473+6A>G | |
| XM_011525340.1:c.1473+6A>G | XP_011523642.1:n.1473+6A>G | |
| XM_011525341.1:c.1473+6A>G | XP_011523643.1:n.1473+6A>G | |
| XM_011525332.3:c.1473+6A>G | XP_011523634.1:n.1473+6A>G | |
| XM_011525333.3:c.1473+6A>G | XP_011523635.1:n.1473+6A>G | |
| XM_011525334.2:c.1473+6A>G | XP_011523636.1:n.1473+6A>G | |
| XM_011525335.3:c.1473+6A>G | XP_011523637.1:n.1473+6A>G | |
| XM_011525336.2:c.1473+6A>G | XP_011523638.1:n.1473+6A>G | |
| XM_011525337.2:c.1473+6A>G | XP_011523639.1:n.1473+6A>G | |
| XM_011525338.2:c.990+6A>G | XP_011523640.1:n.990+6A>G | |
| XM_011525339.3:c.1473+6A>G | XP_011523641.1:n.1473+6A>G | |
| XM_011525340.3:c.1473+6A>G | XP_011523642.1:n.1473+6A>G | |
| XM_011525341.3:c.1473+6A>G | XP_011523643.1:n.1473+6A>G | |
| XM_017025200.1:c.990+6A>G | XP_016880689.1:n.990+6A>G | |
| XM_017025201.1:c.930+6A>G | XP_016880690.1:n.930+6A>G | |
| NM_032043.3:c.1473+6A>G MANE Select | NP_114432.2:n.1473+6A>G |