Linked Data
ClinVar Variation Id:
313802
ClinVar RCV Id:
RCV000370674
dbSNP Id:
rs1957948
gnomAD v2:
14-65542629-C-T
gnomAD v3:
14-65075911-C-T
gnomAD v4:
14-65075911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65075911C>T , CM000676.2:g.65075911C>T | GRCh38 |
| NC_000014.8:g.65542629C>T , CM000676.1:g.65542629C>T | GRCh37 |
| NC_000014.7:g.64612382C>T | NCBI36 |
| NG_029830.1:g.31599G>A , LRG_530:g.31599G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556892.6:c.*565G>A | ENSP00000452206.2:n.*565G>A | |
| ENST00000556979.6:c.*1501G>A | ENSP00000452378.1:n.*1501G>A | |
| ENST00000358664.9:c.*565G>A MANE Select | ENSP00000351490.4:n.*565G>A | |
| ENST00000651648.1:c.145-5542G>A | ENSP00000498863.1:n.145-5542G>A | |
| ENST00000284165.10:c.*1892G>A | ENSP00000284165.6:n.*1892G>A | |
| ENST00000341653.6:c.171+17797G>A | ENSP00000342482.2:n.171+17797G>A | |
| ENST00000358402.8:c.*565G>A | ENSP00000351175.4:n.*565G>A | |
| ENST00000358664.8:c.*565G>A | ENSP00000351490.4:n.*565G>A | |
| ENST00000394606.6:c.*821G>A | ENSP00000378104.2:n.*821G>A | |
| ENST00000555932.5:c.*540G>A | ENSP00000450763.1:n.*540G>A | |
| ENST00000618858.4:c.*837G>A | ENSP00000480127.1:n.*837G>A | |
| NM_001271069.1:c.144+17797G>A | NP_001257998.1:n.144+17797G>A | |
| NM_002382.4:c.*565G>A | NP_002373.3:n.*565G>A | |
| NM_145112.2:c.*565G>A | NP_660087.1:n.*565G>A | |
| NM_145113.2:c.*837G>A | NP_660088.1:n.*837G>A | |
| NM_197957.3:c.171+17797G>A | NP_932061.1:n.171+17797G>A | |
| NR_073137.1:n.1172G>A | ||
| XR_429315.2:n.1335G>A | ||
| NM_001320415.1:c.*565G>A | NP_001307344.1:n.*565G>A | |
| XM_017021312.2:c.*565G>A | XP_016876801.1:n.*565G>A | |
| XM_017021313.1:c.*565G>A | XP_016876802.1:n.*565G>A | |
| XR_001750326.2:n.1393G>A | ||
| XR_001750327.2:n.1312G>A | ||
| XR_002957553.1:n.1826G>A | ||
| XR_943450.3:n.1416G>A | ||
| XR_943451.3:n.1432G>A | ||
| XR_943452.3:n.1377G>A | ||
| NM_001320415.2:c.*565G>A | NP_001307344.1:n.*565G>A | |
| NM_002382.5:c.*565G>A MANE Select | NP_002373.3:n.*565G>A | |
| NM_145112.3:c.*565G>A | NP_660087.1:n.*565G>A | |
| NM_145113.3:c.*837G>A | NP_660088.1:n.*837G>A | |
| NM_001271069.2:c.144+17797G>A | NP_001257998.1:n.144+17797G>A | |
| NM_197957.4:c.171+17797G>A | NP_932061.1:n.171+17797G>A |