Linked Data
ClinVar Variation Id:
293686
dbSNP Id:
rs141235954
ExAC:
1:171073018 C / T
gnomAD v2:
1-171073018-C-T
gnomAD v3:
1-171103877-C-T
gnomAD v4:
1-171103877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171103877C>T , CM000663.2:g.171103877C>T | GRCh38 |
| NC_000001.10:g.171073018C>T , CM000663.1:g.171073018C>T | GRCh37 |
| NC_000001.9:g.169339642C>T | NCBI36 |
| NG_012690.1:g.18001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.225C>T MANE Select | ENSP00000356729.4:p.Pro75= | |
| ENST00000367755.8:c.225C>T | ENSP00000356729.4:p.Pro75= | |
| ENST00000472784.5:c.*205C>T | ENSP00000476963.1:n.*205C>T | |
| ENST00000478457.1:n.538C>T | ||
| ENST00000479749.1:c.225C>T | ENSP00000477451.1:p.Pro75= | |
| NM_001002294.2:c.225C>T | NP_001002294.1:p.Pro75= | |
| NM_006894.5:c.225C>T | NP_008825.4:p.Pro75= | |
| XM_005245044.1:c.133-3798C>T | XP_005245101.1:n.133-3798C>T | |
| XM_011509345.1:c.165C>T | XP_011507647.1:p.Pro55= | |
| XM_011509346.1:c.165C>T | XP_011507648.1:p.Pro55= | |
| NM_001319173.1:c.165C>T | NP_001306102.1:p.Pro55= | |
| NM_001319174.1:c.133-3798C>T | NP_001306103.1:n.133-3798C>T | |
| XM_011509345.3:c.165C>T | XP_011507647.1:p.Pro55= | |
| NM_001002294.3:c.225C>T MANE Select | NP_001002294.1:p.Pro75= | |
| NM_001319173.2:c.165C>T | NP_001306102.1:p.Pro55= | |
| NM_001319174.2:c.133-3798C>T | NP_001306103.1:n.133-3798C>T | |
| NM_006894.6:c.225C>T | NP_008825.4:p.Pro75= |