Linked Data
ClinVar Variation Id:
313790
ClinVar RCV Id:
RCV000328022
dbSNP Id:
rs541851564
gnomAD v2:
14-65541916-G-A
gnomAD v3:
14-65075198-G-A
gnomAD v4:
14-65075198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65075198G>A , CM000676.2:g.65075198G>A | GRCh38 |
| NC_000014.8:g.65541916G>A , CM000676.1:g.65541916G>A | GRCh37 |
| NC_000014.7:g.64611669G>A | NCBI36 |
| NG_029830.1:g.32312C>T , LRG_530:g.32312C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556979.6:c.*2214C>T | ENSP00000452378.1:n.*2214C>T | |
| ENST00000358664.9:c.*1278C>T MANE Select | ENSP00000351490.4:n.*1278C>T | |
| ENST00000651648.1:c.145-4829C>T | ENSP00000498863.1:n.145-4829C>T | |
| ENST00000341653.6:c.171+18510C>T | ENSP00000342482.2:n.171+18510C>T | |
| ENST00000358402.8:c.*1278C>T | ENSP00000351175.4:n.*1278C>T | |
| ENST00000394606.6:c.*1534C>T | ENSP00000378104.2:n.*1534C>T | |
| ENST00000555932.5:c.*1253C>T | ENSP00000450763.1:n.*1253C>T | |
| ENST00000618858.4:c.*1550C>T | ENSP00000480127.1:n.*1550C>T | |
| NM_001271069.1:c.144+18510C>T | NP_001257998.1:n.144+18510C>T | |
| NM_002382.4:c.*1278C>T | NP_002373.3:n.*1278C>T | |
| NM_145112.2:c.*1278C>T | NP_660087.1:n.*1278C>T | |
| NM_145113.2:c.*1550C>T | NP_660088.1:n.*1550C>T | |
| NM_197957.3:c.171+18510C>T | NP_932061.1:n.171+18510C>T | |
| NR_073137.1:n.1885C>T | ||
| XR_429315.2:n.2048C>T | ||
| NM_001320415.1:c.*1278C>T | NP_001307344.1:n.*1278C>T | |
| XM_017021312.2:c.*1278C>T | XP_016876801.1:n.*1278C>T | |
| XM_017021313.1:c.*1278C>T | XP_016876802.1:n.*1278C>T | |
| XR_001750326.2:n.2106C>T | ||
| XR_001750327.2:n.2025C>T | ||
| XR_002957553.1:n.2539C>T | ||
| XR_943450.3:n.2129C>T | ||
| XR_943451.3:n.2145C>T | ||
| XR_943452.3:n.2090C>T | ||
| NM_001320415.2:c.*1278C>T | NP_001307344.1:n.*1278C>T | |
| NM_002382.5:c.*1278C>T MANE Select | NP_002373.3:n.*1278C>T | |
| NM_145112.3:c.*1278C>T | NP_660087.1:n.*1278C>T | |
| NM_145113.3:c.*1550C>T | NP_660088.1:n.*1550C>T | |
| NM_001271069.2:c.144+18510C>T | NP_001257998.1:n.144+18510C>T | |
| NM_197957.4:c.171+18510C>T | NP_932061.1:n.171+18510C>T |