Linked Data
ClinVar Variation Id:
355027
dbSNP Id:
rs548471516
gnomAD v2:
6-110012507-A-G
gnomAD v3:
6-109691304-A-G
gnomAD v4:
6-109691304-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109691304A>G , CM000668.2:g.109691304A>G | GRCh38 |
| NC_000006.11:g.110012507A>G , CM000668.1:g.110012507A>G | GRCh37 |
| NC_000006.10:g.110119200A>G | NCBI36 |
| NG_007977.1:g.5084A>G , LRG_241:g.5084A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.-132A>G MANE Select | ENSP00000230124.4:n.-132A>G | |
| ENST00000368941.2:c.-132A>G | ENSP00000357937.2:n.-132A>G | |
| ENST00000454215.6:c.-132A>G | ENSP00000412156.2:n.-132A>G | |
| ENST00000674532.1:n.39A>G | ||
| ENST00000674569.1:c.-132A>G | ENSP00000502769.1:n.-132A>G | |
| ENST00000674575.1:c.-132A>G | ENSP00000502276.1:n.-132A>G | |
| ENST00000674641.1:c.-254A>G | ENSP00000501609.1:n.-254A>G | |
| ENST00000674644.1:c.-452A>G | ENSP00000502201.1:n.-452A>G | |
| ENST00000674657.1:c.-132A>G | ENSP00000502314.1:n.-132A>G | |
| ENST00000674744.1:c.-132A>G | ENSP00000501661.1:n.-132A>G | |
| ENST00000674778.1:c.-132A>G | ENSP00000502742.1:n.-132A>G | |
| ENST00000674783.1:c.-132A>G | ENSP00000502755.1:n.-132A>G | |
| ENST00000674930.1:c.-132A>G | ENSP00000502657.1:n.-132A>G | |
| ENST00000674933.1:c.-361A>G | ENSP00000502376.1:n.-361A>G | |
| ENST00000674956.1:c.-132A>G | ENSP00000501904.1:n.-132A>G | |
| ENST00000675004.1:c.-132A>G | ENSP00000501868.1:n.-132A>G | |
| ENST00000675009.1:c.-132A>G | ENSP00000502098.1:n.-132A>G | |
| ENST00000675115.1:n.2A>G | ||
| ENST00000675122.1:c.-132A>G | ENSP00000501810.1:n.-132A>G | |
| ENST00000675284.1:c.-132A>G | ENSP00000502758.1:n.-132A>G | |
| ENST00000675426.1:c.-132A>G | ENSP00000501819.1:n.-132A>G | |
| ENST00000675523.1:c.-361A>G | ENSP00000502384.1:n.-361A>G | |
| ENST00000675552.1:c.-132A>G | ENSP00000502197.1:n.-132A>G | |
| ENST00000675606.1:c.-439A>G | ENSP00000501583.1:n.-439A>G | |
| ENST00000675714.1:c.-132A>G | ENSP00000502561.1:n.-132A>G | |
| ENST00000675726.1:c.-132A>G | ENSP00000502452.1:n.-132A>G | |
| ENST00000675772.1:c.-132A>G | ENSP00000501678.1:n.-132A>G | |
| ENST00000675844.1:c.-166+390A>G | ENSP00000502353.1:n.-166+390A>G | |
| ENST00000675887.1:c.-132A>G | ENSP00000502123.1:n.-132A>G | |
| ENST00000675991.1:c.-132A>G | ENSP00000502162.1:n.-132A>G | |
| ENST00000676037.1:c.-132A>G | ENSP00000502181.1:n.-132A>G | |
| ENST00000676136.1:n.9A>G | ||
| ENST00000676435.1:c.-132A>G | ENSP00000502614.1:n.-132A>G | |
| ENST00000676442.1:c.-132A>G | ENSP00000502595.1:n.-132A>G | |
| NM_014845.5:c.-132A>G , LRG_241t1:c.-132A>G | NP_055660.1:n.-132A>G | |
| XM_017011591.2:c.-132A>G | XP_016867080.1:n.-132A>G | |
| XM_017011592.1:c.-524A>G | XP_016867081.1:n.-524A>G | |
| XM_017011593.2:c.-832A>G | XP_016867082.1:n.-832A>G | |
| NM_014845.6:c.-132A>G MANE Select | NP_055660.1:n.-132A>G |