Linked Data
ClinVar Variation Id:
136580
ClinVar RCV Id:
RCV000124030
RCV000212336
RCV000409837
RCV000411782
RCV000679785
RCV000989977
RCV001082541
RCV001798415
dbSNP Id:
rs4987050
ExAC:
17:59760948 A / G
gnomAD v2:
17-59760948-A-G
gnomAD v3:
17-61683587-A-G
gnomAD v4:
17-61683587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683587A>G , CM000679.2:g.61683587A>G | GRCh38 |
| NC_000017.10:g.59760948A>G , CM000679.1:g.59760948A>G | GRCh37 |
| NC_000017.9:g.57115730A>G | NCBI36 |
| NG_007409.2:g.184973T>C , LRG_300:g.184973T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2199T>C | ||
| ENST00000682453.1:c.3459T>C | ENSP00000506943.1:p.Asp1153= | |
| ENST00000682477.1:c.*2885T>C | ENSP00000507075.1:n.*2885T>C | |
| ENST00000682589.1:n.9336T>C | ||
| ENST00000682755.1:c.3237T>C | ENSP00000507660.1:p.Asp1079= | |
| ENST00000682989.1:c.*550T>C | ENSP00000507786.1:n.*550T>C | |
| ENST00000683039.1:c.3459T>C | ENSP00000508303.1:p.Asp1153= | |
| ENST00000683235.1:c.*874T>C | ENSP00000507646.1:n.*874T>C | |
| ENST00000683535.1:n.1589T>C | ||
| ENST00000684584.1:c.2622T>C | ENSP00000508044.1:p.Asp874= | |
| ENST00000684626.1:n.1705T>C | ||
| ENST00000684769.1:c.1649T>C | ENSP00000507691.1:n.1649T>C | |
| ENST00000259008.7:c.3459T>C MANE Select | ENSP00000259008.2:p.Asp1153= | |
| ENST00000259008.6:c.3459T>C | ENSP00000259008.2:p.Asp1153= | |
| NM_032043.2:c.3459T>C , LRG_300t1:c.3459T>C | NP_114432.2:p.Asp1153= | |
| XM_011525332.1:c.3519T>C | XP_011523634.1:p.Asp1173= | |
| XM_011525333.1:c.3519T>C | XP_011523635.1:p.Asp1173= | |
| XM_011525334.1:c.3519T>C | XP_011523636.1:p.Asp1173= | |
| XM_011525335.1:c.3459T>C | XP_011523637.1:p.Asp1153= | |
| XM_011525336.1:c.3399T>C | XP_011523638.1:p.Asp1133= | |
| XM_011525337.1:c.3318T>C | XP_011523639.1:p.Asp1106= | |
| XM_011525338.1:c.3036T>C | XP_011523640.1:p.Asp1012= | |
| XM_011525332.3:c.3519T>C | XP_011523634.1:p.Asp1173= | |
| XM_011525333.3:c.3519T>C | XP_011523635.1:p.Asp1173= | |
| XM_011525334.2:c.3519T>C | XP_011523636.1:p.Asp1173= | |
| XM_011525335.3:c.3459T>C | XP_011523637.1:p.Asp1153= | |
| XM_011525336.2:c.3399T>C | XP_011523638.1:p.Asp1133= | |
| XM_011525337.2:c.3318T>C | XP_011523639.1:p.Asp1106= | |
| XM_011525338.2:c.3036T>C | XP_011523640.1:p.Asp1012= | |
| XM_017025200.1:c.2976T>C | XP_016880689.1:p.Asp992= | |
| XM_017025201.1:c.2976T>C | XP_016880690.1:p.Asp992= | |
| XM_017025202.1:c.1605T>C | XP_016880691.1:p.Asp535= | |
| XM_017025203.1:c.1605T>C | XP_016880692.1:p.Asp535= | |
| NM_032043.3:c.3459T>C MANE Select | NP_114432.2:p.Asp1153= |