Linked Data
ClinVar Variation Id:
491443
dbSNP Id:
rs890923836
gnomAD v2:
17-59770884-T-C
gnomAD v3:
17-61693523-T-C
gnomAD v4:
17-61693523-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61693523T>C , CM000679.2:g.61693523T>C | GRCh38 |
| NC_000017.10:g.59770884T>C , CM000679.1:g.59770884T>C | GRCh37 |
| NC_000017.9:g.57125666T>C | NCBI36 |
| NG_007409.2:g.175037A>G , LRG_300:g.175037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2623-11A>G | ENSP00000507191.1:n.2623-11A>G | |
| ENST00000682073.1:n.1233-11A>G | ||
| ENST00000682433.1:n.1572-11A>G | ||
| ENST00000682453.1:c.2493-11A>G | ENSP00000506943.1:n.2493-11A>G | |
| ENST00000682477.1:c.*1919-11A>G | ENSP00000507075.1:n.*1919-11A>G | |
| ENST00000682589.1:n.8370-11A>G | ||
| ENST00000682755.1:c.2271-11A>G | ENSP00000507660.1:n.2271-11A>G | |
| ENST00000682989.1:c.2493-5051A>G | ENSP00000507786.1:n.2493-5051A>G | |
| ENST00000683039.1:c.2493-11A>G | ENSP00000508303.1:n.2493-11A>G | |
| ENST00000683235.1:c.2493-7358A>G | ENSP00000507646.1:n.2493-7358A>G | |
| ENST00000683535.1:n.623-11A>G | ||
| ENST00000684471.1:n.906-11A>G | ||
| ENST00000684584.1:c.1986-11A>G | ENSP00000508044.1:n.1986-11A>G | |
| ENST00000684626.1:n.822-7358A>G | ||
| ENST00000684769.1:c.558-11A>G | ENSP00000507691.1:n.558-11A>G | |
| ENST00000259008.7:c.2493-11A>G MANE Select | ENSP00000259008.2:n.2493-11A>G | |
| ENST00000259008.6:c.2493-11A>G | ENSP00000259008.2:n.2493-11A>G | |
| ENST00000577598.5:c.2493-11A>G | ENSP00000464654.1:n.2493-11A>G | |
| NM_032043.2:c.2493-11A>G , LRG_300t1:c.2493-11A>G | NP_114432.2:n.2493-11A>G | |
| XM_011525332.1:c.2553-11A>G | XP_011523634.1:n.2553-11A>G | |
| XM_011525333.1:c.2553-11A>G | XP_011523635.1:n.2553-11A>G | |
| XM_011525334.1:c.2553-11A>G | XP_011523636.1:n.2553-11A>G | |
| XM_011525335.1:c.2493-11A>G | XP_011523637.1:n.2493-11A>G | |
| XM_011525336.1:c.2433-11A>G | XP_011523638.1:n.2433-11A>G | |
| XM_011525337.1:c.2352-11A>G | XP_011523639.1:n.2352-11A>G | |
| XM_011525338.1:c.2070-11A>G | XP_011523640.1:n.2070-11A>G | |
| XM_011525340.1:c.2553-7358A>G | XP_011523642.1:n.2553-7358A>G | |
| XM_011525332.3:c.2553-11A>G | XP_011523634.1:n.2553-11A>G | |
| XM_011525333.3:c.2553-11A>G | XP_011523635.1:n.2553-11A>G | |
| XM_011525334.2:c.2553-11A>G | XP_011523636.1:n.2553-11A>G | |
| XM_011525335.3:c.2493-11A>G | XP_011523637.1:n.2493-11A>G | |
| XM_011525336.2:c.2433-11A>G | XP_011523638.1:n.2433-11A>G | |
| XM_011525337.2:c.2352-11A>G | XP_011523639.1:n.2352-11A>G | |
| XM_011525338.2:c.2070-11A>G | XP_011523640.1:n.2070-11A>G | |
| XM_011525340.3:c.2553-7358A>G | XP_011523642.1:n.2553-7358A>G | |
| XM_017025200.1:c.2010-11A>G | XP_016880689.1:n.2010-11A>G | |
| XM_017025201.1:c.2010-11A>G | XP_016880690.1:n.2010-11A>G | |
| XM_017025202.1:c.639-11A>G | XP_016880691.1:n.639-11A>G | |
| XM_017025203.1:c.639-11A>G | XP_016880692.1:n.639-11A>G | |
| NM_032043.3:c.2493-11A>G MANE Select | NP_114432.2:n.2493-11A>G |