Linked Data
ClinVar Variation Id:
225040
ClinVar RCV Id:
RCV002515587
dbSNP Id:
rs869312935
gnomAD v4:
1-2406719-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406719C>G , CM000663.2:g.2406719C>G | GRCh38 |
| NC_000001.10:g.2338158C>G , CM000663.1:g.2338158C>G | GRCh37 |
| NC_000001.9:g.2328018C>G | NCBI36 |
| NG_008342.1:g.10853G>C | |
| NG_016128.1:g.19945C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288774.8:c.836+1G>C | ENSP00000288774.3:n.836+1G>C | |
| ENST00000447513.7:c.776+1G>C MANE Select | ENSP00000407922.2:n.776+1G>C | |
| ENST00000650293.1:c.730+1G>C | ||
| ENST00000288774.7:c.836+1G>C | ENSP00000288774.3:n.836+1G>C | |
| ENST00000447513.6:c.776+1G>C | ENSP00000407922.2:n.776+1G>C | |
| ENST00000507596.5:c.776+1G>C | ENSP00000424291.1:n.776+1G>C | |
| ENST00000510434.1:c.*142+1G>C | ENSP00000423051.1:n.*142+1G>C | |
| NM_002617.3:c.776+1G>C | NP_002608.1:n.776+1G>C | |
| NM_153818.1:c.836+1G>C | NP_722540.1:n.836+1G>C | |
| XM_011541573.1:c.833+1G>C | XP_011539875.1:n.833+1G>C | |
| XM_011541574.1:c.401+1G>C | XP_011539876.1:n.401+1G>C | |
| XM_011541575.1:c.401+1G>C | XP_011539877.1:n.401+1G>C | |
| XR_946666.1:n.892+1G>C | ||
| XR_946666.2:n.841+1G>C | ||
| NM_001374425.1:c.833+1G>C | NP_001361354.1:n.833+1G>C | |
| NM_001374426.1:c.401+1G>C | NP_001361355.1:n.401+1G>C | |
| NM_001374427.1:c.344+1G>C | NP_001361356.1:n.344+1G>C | |
| NM_002617.4:c.776+1G>C MANE Select | NP_002608.1:n.776+1G>C | |
| NM_153818.2:c.836+1G>C | NP_722540.1:n.836+1G>C | |
| NR_164636.1:n.891+1G>C |