Linked Data
ClinVar Variation Id:
297323
ClinVar RCV Id:
RCV000314909
dbSNP Id:
rs972101560
gnomAD v3:
1-42733774-C-T
gnomAD v4:
1-42733774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42733774C>T , CM000663.2:g.42733774C>T | GRCh38 |
| NC_000001.10:g.43199445C>T , CM000663.1:g.43199445C>T | GRCh37 |
| NC_000001.9:g.42972032C>T | NCBI36 |
| NG_008993.1:g.11481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*1312G>A MANE Select | ENSP00000296387.1:n.*1312G>A | |
| ENST00000296387.5:c.*1312G>A | ENSP00000296387.1:n.*1312G>A | |
| ENST00000539749.5:c.*1988G>A | ENSP00000443229.1:n.*1988G>A | |
| NM_001123395.1:c.*2094G>A | NP_001116867.1:n.*2094G>A | |
| NM_001185117.1:c.*1988G>A | NP_001172046.1:n.*1988G>A | |
| NM_148960.2:c.*1312G>A | NP_683763.2:n.*1312G>A | |
| NM_001123395.2:c.*2094G>A | NP_001116867.1:n.*2094G>A | |
| NM_148960.3:c.*1312G>A MANE Select | NP_683763.2:n.*1312G>A | |
| NM_001185117.2:c.*1988G>A | NP_001172046.1:n.*1988G>A |