Linked Data
ClinVar Variation Id:
324323
ClinVar RCV Id:
RCV000261750
dbSNP Id:
rs140267868
gnomAD v2:
17-59758693-A-G
gnomAD v3:
17-61681332-A-G
gnomAD v4:
17-61681332-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61681332A>G , CM000679.2:g.61681332A>G | GRCh38 |
| NC_000017.10:g.59758693A>G , CM000679.1:g.59758693A>G | GRCh37 |
| NC_000017.9:g.57113475A>G | NCBI36 |
| NG_007409.2:g.187228T>C , LRG_300:g.187228T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682453.1:c.*1964T>C | ENSP00000506943.1:n.*1964T>C | |
| ENST00000682589.1:n.11591T>C | ||
| ENST00000682755.1:c.*1964T>C | ENSP00000507660.1:n.*1964T>C | |
| ENST00000682989.1:c.*2805T>C | ENSP00000507786.1:n.*2805T>C | |
| ENST00000683039.1:c.*1964T>C | ENSP00000508303.1:n.*1964T>C | |
| ENST00000683235.1:c.*3129T>C | ENSP00000507646.1:n.*3129T>C | |
| ENST00000683535.1:n.3844T>C | ||
| ENST00000259008.7:c.*1964T>C MANE Select | ENSP00000259008.2:n.*1964T>C | |
| ENST00000259008.6:c.*1964T>C | ENSP00000259008.2:n.*1964T>C | |
| NM_032043.2:c.*1964T>C , LRG_300t1:c.*1964T>C | NP_114432.2:n.*1964T>C | |
| XM_011525332.1:c.*1964T>C | XP_011523634.1:n.*1964T>C | |
| XM_011525333.1:c.*1964T>C | XP_011523635.1:n.*1964T>C | |
| XM_011525334.1:c.*1964T>C | XP_011523636.1:n.*1964T>C | |
| XM_011525335.1:c.*1964T>C | XP_011523637.1:n.*1964T>C | |
| XM_011525336.1:c.*1964T>C | XP_011523638.1:n.*1964T>C | |
| XM_011525337.1:c.*1964T>C | XP_011523639.1:n.*1964T>C | |
| XM_011525338.1:c.*1964T>C | XP_011523640.1:n.*1964T>C | |
| XM_011525332.3:c.*1964T>C | XP_011523634.1:n.*1964T>C | |
| XM_011525333.3:c.*1964T>C | XP_011523635.1:n.*1964T>C | |
| XM_011525334.2:c.*1964T>C | XP_011523636.1:n.*1964T>C | |
| XM_011525335.3:c.*1964T>C | XP_011523637.1:n.*1964T>C | |
| XM_011525336.2:c.*1964T>C | XP_011523638.1:n.*1964T>C | |
| XM_011525337.2:c.*1964T>C | XP_011523639.1:n.*1964T>C | |
| XM_011525338.2:c.*1964T>C | XP_011523640.1:n.*1964T>C | |
| XM_017025200.1:c.*1964T>C | XP_016880689.1:n.*1964T>C | |
| XM_017025201.1:c.*1964T>C | XP_016880690.1:n.*1964T>C | |
| XM_017025202.1:c.*1964T>C | XP_016880691.1:n.*1964T>C | |
| XM_017025203.1:c.*1964T>C | XP_016880692.1:n.*1964T>C | |
| NM_032043.3:c.*1964T>C MANE Select | NP_114432.2:n.*1964T>C |