Linked Data
ClinVar Variation Id:
295580
dbSNP Id:
rs138571819
gnomAD v2:
1-220088515-G-A
gnomAD v3:
1-219915173-G-A
gnomAD v4:
1-219915173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219915173G>A , CM000663.2:g.219915173G>A | GRCh38 |
| NC_000001.10:g.220088515G>A , CM000663.1:g.220088515G>A | GRCh37 |
| NC_000001.9:g.218155138G>A | NCBI36 |
| NG_032153.1:g.18479C>T | |
| NG_032153.2:g.18479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.1545C>T | ENSP00000512752.1:n.1545C>T | |
| ENST00000366926.4:c.*276C>T MANE Select | ENSP00000355893.4:n.*276C>T | |
| ENST00000356609.2:c.*1100C>T | ENSP00000349018.2:n.*1100C>T | |
| ENST00000366926.3:c.*276C>T | ENSP00000355893.3:n.*276C>T | |
| ENST00000484079.1:n.1552C>T | ||
| ENST00000484239.5:n.398+3082C>T | ||
| NM_018713.2:c.*276C>T | NP_061183.2:n.*276C>T | |
| NR_046437.1:n.1983C>T | ||
| XM_006711437.2:c.*276C>T | XP_006711500.2:n.*276C>T | |
| XM_011509727.1:c.*276C>T | XP_011508029.1:n.*276C>T | |
| XM_006711437.4:c.*276C>T | XP_006711500.2:n.*276C>T | |
| XM_017001684.2:c.*276C>T | XP_016857173.1:n.*276C>T | |
| NM_001376929.1:c.*276C>T | NP_001363858.1:n.*276C>T | |
| NM_018713.3:c.*276C>T MANE Select | NP_061183.2:n.*276C>T | |
| NR_046437.2:n.1889C>T | ||
| NR_165031.1:n.1626C>T |