Linked Data
ClinVar Variation Id:
1262368
ClinVar RCV Id:
RCV001667487
dbSNP Id:
rs1136666
ExAC:
12:6643991 C / G
gnomAD v2:
12-6643991-C-G
gnomAD v3:
12-6534825-C-G
gnomAD v4:
12-6534825-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534825C>G , CM000674.2:g.6534825C>G | GRCh38 |
| NC_000012.11:g.6643991C>G , CM000674.1:g.6643991C>G | GRCh37 |
| NC_000012.10:g.6514252C>G | NCBI36 |
| NG_007073.2:g.5335C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229239.10:c.-8C>G MANE Select | ENSP00000229239.5:n.-8C>G | |
| ENST00000229239.9:c.-8C>G | ENSP00000229239.5:n.-8C>G | |
| ENST00000396856.5:c.-260C>G | ENSP00000380065.1:n.-260C>G | |
| ENST00000396859.5:c.-8C>G | ENSP00000380068.1:n.-8C>G | |
| ENST00000396861.5:c.-8C>G | ENSP00000380070.1:n.-8C>G | |
| ENST00000466525.1:n.34C>G | ||
| ENST00000466588.5:n.72C>G | ||
| ENST00000474249.5:n.45C>G | ||
| ENST00000492719.5:n.53C>G | ||
| ENST00000496049.1:n.74C>G | ||
| NM_001289745.1:c.-8C>G | NP_001276674.1:n.-8C>G | |
| NM_001289746.1:c.-8C>G | NP_001276675.1:n.-8C>G | |
| NM_002046.5:c.-8C>G | NP_002037.2:n.-8C>G | |
| NM_001289745.2:c.-8C>G | NP_001276674.1:n.-8C>G | |
| NM_001357943.1:c.-8C>G | NP_001344872.1:n.-8C>G | |
| NM_002046.6:c.-8C>G | NP_002037.2:n.-8C>G | |
| NR_152150.1:n.69C>G | ||
| NM_002046.7:c.-8C>G MANE Select | NP_002037.2:n.-8C>G | |
| NM_001289745.3:c.-8C>G | NP_001276674.1:n.-8C>G | |
| NM_001289746.2:c.-8C>G | NP_001276675.1:n.-8C>G | |
| NM_001357943.2:c.-8C>G | NP_001344872.1:n.-8C>G | |
| NR_152150.2:n.69C>G |