Linked Data
ClinVar Variation Id:
883970
ClinVar RCV Id:
RCV001114771
dbSNP Id:
rs1357628064
gnomAD v3:
14-65075441-G-A
gnomAD v4:
14-65075441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65075441G>A , CM000676.2:g.65075441G>A | GRCh38 |
| NC_000014.8:g.65542159G>A , CM000676.1:g.65542159G>A | GRCh37 |
| NC_000014.7:g.64611912G>A | NCBI36 |
| NG_029830.1:g.32069C>T , LRG_530:g.32069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556979.6:c.*1971C>T | ENSP00000452378.1:n.*1971C>T | |
| ENST00000358664.9:c.*1035C>T MANE Select | ENSP00000351490.4:n.*1035C>T | |
| ENST00000651648.1:c.145-5072C>T | ENSP00000498863.1:n.145-5072C>T | |
| ENST00000284165.10:c.*2362C>T | ENSP00000284165.6:n.*2362C>T | |
| ENST00000341653.6:c.171+18267C>T | ENSP00000342482.2:n.171+18267C>T | |
| ENST00000358402.8:c.*1035C>T | ENSP00000351175.4:n.*1035C>T | |
| ENST00000394606.6:c.*1291C>T | ENSP00000378104.2:n.*1291C>T | |
| ENST00000555932.5:c.*1010C>T | ENSP00000450763.1:n.*1010C>T | |
| ENST00000618858.4:c.*1307C>T | ENSP00000480127.1:n.*1307C>T | |
| NM_001271069.1:c.144+18267C>T | NP_001257998.1:n.144+18267C>T | |
| NM_002382.4:c.*1035C>T | NP_002373.3:n.*1035C>T | |
| NM_145112.2:c.*1035C>T | NP_660087.1:n.*1035C>T | |
| NM_145113.2:c.*1307C>T | NP_660088.1:n.*1307C>T | |
| NM_197957.3:c.171+18267C>T | NP_932061.1:n.171+18267C>T | |
| NR_073137.1:n.1642C>T | ||
| XR_429315.2:n.1805C>T | ||
| NM_001320415.1:c.*1035C>T | NP_001307344.1:n.*1035C>T | |
| XM_017021312.2:c.*1035C>T | XP_016876801.1:n.*1035C>T | |
| XM_017021313.1:c.*1035C>T | XP_016876802.1:n.*1035C>T | |
| XR_001750326.2:n.1863C>T | ||
| XR_001750327.2:n.1782C>T | ||
| XR_002957553.1:n.2296C>T | ||
| XR_943450.3:n.1886C>T | ||
| XR_943451.3:n.1902C>T | ||
| XR_943452.3:n.1847C>T | ||
| NM_001320415.2:c.*1035C>T | NP_001307344.1:n.*1035C>T | |
| NM_002382.5:c.*1035C>T MANE Select | NP_002373.3:n.*1035C>T | |
| NM_145112.3:c.*1035C>T | NP_660087.1:n.*1035C>T | |
| NM_145113.3:c.*1307C>T | NP_660088.1:n.*1307C>T | |
| NM_001271069.2:c.144+18267C>T | NP_001257998.1:n.144+18267C>T | |
| NM_197957.4:c.171+18267C>T | NP_932061.1:n.171+18267C>T |