Linked Data
ClinVar Variation Id:
1327930
ClinVar RCV Id:
RCV001794871
dbSNP Id:
rs836478
ExAC:
7:6431690 C / T
gnomAD v2:
7-6431690-C-T
gnomAD v3:
7-6392059-C-T
gnomAD v4:
7-6392059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6392059C>T , CM000669.2:g.6392059C>T | GRCh38 |
| NC_000007.13:g.6431690C>T , CM000669.1:g.6431690C>T | GRCh37 |
| NC_000007.12:g.6398215C>T | NCBI36 |
| NG_029431.1:g.22565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696666.1:n.431C>T | ||
| ENST00000704002.1:c.324+18C>T | ENSP00000515615.1:n.324+18C>T | |
| ENST00000704003.1:c.*178+18C>T | ENSP00000515616.1:n.*178+18C>T | |
| ENST00000348035.9:c.225+18C>T MANE Select | ENSP00000258737.7:n.225+18C>T | |
| ENST00000348035.8:c.225+18C>T | ENSP00000258737.7:n.225+18C>T | |
| ENST00000356142.4:c.225+18C>T | ENSP00000348461.4:n.225+18C>T | |
| ENST00000488373.5:n.456+18C>T | ||
| ENST00000497741.5:n.241+18C>T | ||
| NM_006908.4:c.225+18C>T | NP_008839.2:n.225+18C>T | |
| NM_018890.3:c.225+18C>T | NP_061485.1:n.225+18C>T | |
| NM_006908.5:c.225+18C>T MANE Select | NP_008839.2:n.225+18C>T | |
| NM_018890.4:c.225+18C>T | NP_061485.1:n.225+18C>T |