Linked Data
ClinVar Variation Id:
422406
dbSNP Id:
rs1064795758
gnomAD v3:
9-35090064-A-G
gnomAD v4:
9-35090064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35090064A>G , CM000671.2:g.35090064A>G | GRCh38 |
| NC_000009.11:g.35090061A>G , CM000671.1:g.35090061A>G | GRCh37 |
| NC_000009.10:g.35080061A>G | NCBI36 |
| NG_031990.1:g.11538T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361778.7:c.1818+2T>C | ENSP00000354678.2:n.1818+2T>C | |
| ENST00000700254.1:c.1818+2T>C | ENSP00000514892.1:n.1818+2T>C | |
| ENST00000700255.1:c.*2249+2T>C | ENSP00000514893.1:n.*2249+2T>C | |
| ENST00000700256.1:n.3288T>C | ||
| ENST00000700257.1:c.3069+2T>C | ENSP00000514894.1:n.3069+2T>C | |
| ENST00000700258.1:n.1060+2T>C | ||
| ENST00000700259.1:c.*632+2T>C | ENSP00000514895.1:n.*632+2T>C | |
| ENST00000700260.1:c.1638+2T>C | ENSP00000514896.1:n.1638+2T>C | |
| ENST00000700261.1:c.2076+2T>C | ENSP00000514897.1:n.2076+2T>C | |
| ENST00000700262.1:c.1818+2T>C | ENSP00000514898.1:n.1818+2T>C | |
| ENST00000700263.1:c.2945+2T>C | ENSP00000514899.1:n.2945+2T>C | |
| ENST00000700264.1:c.3069+2T>C | ENSP00000514900.1:n.3069+2T>C | |
| ENST00000378617.4:c.3069+2T>C MANE Select | ENSP00000367880.3:n.3069+2T>C | |
| ENST00000298004.9:c.1818+2T>C | ENSP00000298004.5:n.1818+2T>C | |
| ENST00000361778.6:c.1818+2T>C | ENSP00000354678.2:n.1818+2T>C | |
| ENST00000378617.3:c.3069+2T>C | ENSP00000367880.3:n.3069+2T>C | |
| ENST00000465745.6:n.4076T>C | ||
| ENST00000474436.1:n.5281T>C | ||
| ENST00000491687.1:n.204+402T>C | ||
| NM_001201484.1:c.1818+2T>C | NP_001188413.1:n.1818+2T>C | |
| NM_032634.3:c.3069+2T>C | NP_116023.2:n.3069+2T>C | |
| NM_152850.3:c.1818+2T>C | NP_690577.2:n.1818+2T>C | |
| XM_005251619.2:c.3069+2T>C | XP_005251676.1:n.3069+2T>C | |
| XM_011518056.1:c.3069+2T>C | XP_011516358.1:n.3069+2T>C | |
| XR_242515.1:n.3094+2T>C | ||
| XM_005251619.3:c.3069+2T>C | XP_005251676.1:n.3069+2T>C | |
| XM_017015222.2:c.3069+2T>C | XP_016870711.1:n.3069+2T>C | |
| XM_017015223.1:c.1818+2T>C | XP_016870712.1:n.1818+2T>C | |
| XM_017015224.1:c.1818+2T>C | XP_016870713.1:n.1818+2T>C | |
| XR_001746390.1:n.3496+2T>C | ||
| XR_001746391.2:n.1843+2T>C | ||
| XR_242515.3:n.3094+2T>C | ||
| NM_032634.4:c.3069+2T>C MANE Select | NP_116023.2:n.3069+2T>C | |
| NM_001201484.2:c.1818+2T>C | NP_001188413.1:n.1818+2T>C | |
| NM_152850.4:c.1818+2T>C | NP_690577.2:n.1818+2T>C |