Linked Data
ClinVar Variation Id:
1070057
ClinVar RCV Id:
RCV001382084
dbSNP Id:
rs111033245
gnomAD v4:
7-107683355-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107683355G>C , CM000669.2:g.107683355G>C | GRCh38 |
| NC_000007.13:g.107323800G>C , CM000669.1:g.107323800G>C | GRCh37 |
| NC_000007.12:g.107111036G>C | NCBI36 |
| NG_008489.1:g.27721G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.918+1G>C MANE Select | ENSP00000494017.1:n.918+1G>C | |
| ENST00000265715.7:c.918+1G>C | ENSP00000265715.3:n.918+1G>C | |
| NM_000441.1:c.918+1G>C | NP_000432.1:n.918+1G>C | |
| XM_005250425.1:c.918+1G>C | XP_005250482.1:n.918+1G>C | |
| XM_006716025.2:c.918+1G>C | XP_006716088.1:n.918+1G>C | |
| XM_005250425.2:c.918+1G>C | XP_005250482.1:n.918+1G>C | |
| XM_006716025.3:c.918+1G>C | XP_006716088.1:n.918+1G>C | |
| XM_017012318.1:c.918+1G>C | XP_016867807.1:n.918+1G>C | |
| NM_000441.2:c.918+1G>C MANE Select | NP_000432.1:n.918+1G>C |