Linked Data
ClinVar Variation Id:
297916
ClinVar RCV Id:
RCV000289591
dbSNP Id:
rs3007418
gnomAD v2:
1-6526633-G-A
gnomAD v3:
1-6466573-G-A
gnomAD v4:
1-6466573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6466573G>A , CM000663.2:g.6466573G>A | GRCh38 |
| NC_000001.10:g.6526633G>A , CM000663.1:g.6526633G>A | GRCh37 |
| NC_000001.9:g.6449220G>A | NCBI36 |
| NG_007978.1:g.58437C>T , LRG_262:g.58437C>T | |
| NG_029910.1:g.4623C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.9:c.*990C>T | ENSP00000344570.5:n.*990C>T | |
| ENST00000377748.5:c.*990C>T | ENSP00000366977.1:n.*990C>T | |
| ENST00000400913.5:c.*990C>T | ENSP00000383704.1:n.*990C>T | |
| ENST00000489097.5:n.4487C>T | ||
| ENST00000535355.5:c.*990C>T | ENSP00000441445.1:n.*990C>T | |
| ENST00000537245.5:c.*990C>T | ENSP00000439625.1:n.*990C>T | |
| NM_001042663.1:c.*990C>T | NP_001036128.1:n.*990C>T | |
| NM_001042664.1:c.*990C>T | NP_001036129.1:n.*990C>T | |
| NM_001042665.1:c.*990C>T | NP_001036130.1:n.*990C>T | |
| NM_001265592.1:c.*990C>T | NP_001252521.1:n.*990C>T | |
| NM_001265593.1:c.*990C>T | NP_001252522.1:n.*990C>T | |
| NM_001265594.1:c.*1018C>T | NP_001252523.1:n.*1018C>T | |
| NM_020631.4:c.*990C>T | NP_065682.2:n.*990C>T | |
| NM_198681.3:c.*990C>T | NP_941374.2:n.*990C>T | |
| NM_001042663.2:c.*990C>T | NP_001036128.1:n.*990C>T | |
| NM_001265594.2:c.*1018C>T | NP_001252523.1:n.*1018C>T | |
| NM_020631.5:c.*990C>T | NP_065682.2:n.*990C>T |