Linked Data
ClinVar Variation Id:
1635054
ClinVar RCV Id:
RCV002133168
dbSNP Id:
rs1402389069
gnomAD v2:
6-143772269-T-C
gnomAD v3:
6-143451132-T-C
gnomAD v4:
6-143451132-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143451132T>C , CM000668.2:g.143451132T>C | GRCh38 |
| NC_000006.11:g.143772269T>C , CM000668.1:g.143772269T>C | GRCh37 |
| NC_000006.10:g.143813962T>C | NCBI36 |
| NG_008459.1:g.5352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.73+17T>C MANE Select | ENSP00000356563.4:n.73+17T>C | |
| ENST00000367591.4:c.73+17T>C | ENSP00000356563.4:n.73+17T>C | |
| ENST00000367592.5:c.73+17T>C | ENSP00000356564.1:n.73+17T>C | |
| NM_003630.2:c.73+17T>C | NP_003621.1:n.73+17T>C | |
| NM_003630.3:c.73+17T>C MANE Select | NP_003621.1:n.73+17T>C |