Linked Data
ClinVar Variation Id:
292804
ClinVar RCV Id:
RCV000343077
dbSNP Id:
rs1052177
ExAC:
1:155260350 A / C
gnomAD v2:
1-155260350-A-C
gnomAD v3:
1-155290559-A-C
gnomAD v4:
1-155290559-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290559A>C , CM000663.2:g.155290559A>C | GRCh38 |
| NC_000001.10:g.155260350A>C , CM000663.1:g.155260350A>C | GRCh37 |
| NC_000001.9:g.153526974A>C | NCBI36 |
| NG_011677.1:g.15876T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.*13T>G MANE Select | ENSP00000339933.4:n.*13T>G | |
| ENST00000342741.4:c.*13T>G | ENSP00000339933.4:n.*13T>G | |
| ENST00000392414.7:c.*13T>G | ENSP00000376214.3:n.*13T>G | |
| NM_000298.5:c.*13T>G | NP_000289.1:n.*13T>G | |
| NM_181871.3:c.*13T>G | NP_870986.1:n.*13T>G | |
| XM_005245266.3:c.*13T>G | XP_005245323.1:n.*13T>G | |
| XM_006711386.2:c.*13T>G | XP_006711449.1:n.*13T>G | |
| XM_011509640.1:c.*13T>G | XP_011507942.1:n.*13T>G | |
| NM_000298.6:c.*13T>G MANE Select | NP_000289.1:n.*13T>G | |
| XM_006711386.4:c.*13T>G | XP_006711449.1:n.*13T>G | |
| XM_011509640.3:c.*13T>G | XP_011507942.1:n.*13T>G | |
| NM_181871.4:c.*13T>G | NP_870986.1:n.*13T>G |