Linked Data
ClinVar Variation Id:
292803
ClinVar RCV Id:
RCV000279687
dbSNP Id:
rs8177994
ExAC:
1:155260349 G / A
gnomAD v2:
1-155260349-G-A
gnomAD v3:
1-155290558-G-A
gnomAD v4:
1-155290558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290558G>A , CM000663.2:g.155290558G>A | GRCh38 |
| NC_000001.10:g.155260349G>A , CM000663.1:g.155260349G>A | GRCh37 |
| NC_000001.9:g.153526973G>A | NCBI36 |
| NG_011677.1:g.15877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.*14C>T MANE Select | ENSP00000339933.4:n.*14C>T | |
| ENST00000342741.4:c.*14C>T | ENSP00000339933.4:n.*14C>T | |
| ENST00000392414.7:c.*14C>T | ENSP00000376214.3:n.*14C>T | |
| NM_000298.5:c.*14C>T | NP_000289.1:n.*14C>T | |
| NM_181871.3:c.*14C>T | NP_870986.1:n.*14C>T | |
| XM_005245266.3:c.*14C>T | XP_005245323.1:n.*14C>T | |
| XM_006711386.2:c.*14C>T | XP_006711449.1:n.*14C>T | |
| XM_011509640.1:c.*14C>T | XP_011507942.1:n.*14C>T | |
| NM_000298.6:c.*14C>T MANE Select | NP_000289.1:n.*14C>T | |
| XM_006711386.4:c.*14C>T | XP_006711449.1:n.*14C>T | |
| XM_011509640.3:c.*14C>T | XP_011507942.1:n.*14C>T | |
| NM_181871.4:c.*14C>T | NP_870986.1:n.*14C>T |