Linked Data
ClinVar Variation Id:
1692652
dbSNP Id:
rs2063104742
gnomAD v4:
14-65077983-T-G
MyVariant Identifiers:
chr14:g.65544701T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65077983T>G , CM000676.2:g.65077983T>G | GRCh38 |
| NC_000014.8:g.65544701T>G , CM000676.1:g.65544701T>G | GRCh37 |
| NC_000014.7:g.64614454T>G | NCBI36 |
| NG_029830.1:g.29527A>C , LRG_530:g.29527A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.6A>C | ENSP00000452206.2:p.Arg2= | |
| ENST00000556979.6:c.225A>C | ENSP00000452378.1:p.Arg75= | |
| ENST00000358664.9:c.225A>C MANE Select | ENSP00000351490.4:p.Arg75= | |
| ENST00000651648.1:c.145-7614A>C | ENSP00000498863.1:n.145-7614A>C | |
| ENST00000284165.10:c.225A>C | ENSP00000284165.6:p.Arg75= | |
| ENST00000341653.6:c.171+15725A>C | ENSP00000342482.2:n.171+15725A>C | |
| ENST00000358402.8:c.198A>C | ENSP00000351175.4:p.Arg66= | |
| ENST00000358664.8:c.225A>C | ENSP00000351490.4:p.Arg75= | |
| ENST00000394606.6:c.225A>C | ENSP00000378104.2:p.Arg75= | |
| ENST00000553928.5:c.225A>C | ENSP00000451907.1:p.Arg75= | |
| ENST00000553951.1:n.302A>C | ||
| ENST00000555419.5:c.117A>C | ENSP00000452405.1:p.Arg39= | |
| ENST00000555667.5:c.198A>C | ENSP00000452286.1:p.Arg66= | |
| ENST00000555932.5:c.37-1320A>C | ENSP00000450763.1:n.37-1320A>C | |
| ENST00000556443.5:c.198A>C | ENSP00000450818.1:p.Arg66= | |
| ENST00000556892.5:c.6A>C | ENSP00000452206.1:p.Arg2= | |
| ENST00000556979.5:c.225A>C | ENSP00000452378.1:p.Arg75= | |
| ENST00000557277.5:c.-50A>C | ENSP00000450955.1:n.-50A>C | |
| ENST00000557746.5:c.198A>C | ENSP00000452197.1:p.Arg66= | |
| ENST00000618858.4:c.225A>C | ENSP00000480127.1:p.Arg75= | |
| NM_001271069.1:c.144+15725A>C | NP_001257998.1:n.144+15725A>C | |
| NM_002382.4:c.225A>C | NP_002373.3:p.Arg75= | |
| NM_145112.2:c.198A>C | NP_660087.1:p.Arg66= | |
| NM_145113.2:c.225A>C | NP_660088.1:p.Arg75= | |
| NM_197957.3:c.171+15725A>C | NP_932061.1:n.171+15725A>C | |
| NR_073137.1:n.349A>C | ||
| XM_011536773.1:c.225A>C | XP_011535075.1:p.Arg75= | |
| XR_429315.2:n.427A>C | ||
| XR_943450.1:n.427A>C | ||
| XR_943451.1:n.427A>C | ||
| XR_943452.1:n.389A>C | ||
| NM_001320415.1:c.-50A>C | NP_001307344.1:n.-50A>C | |
| XM_011536773.3:c.225A>C | XP_011535075.1:p.Arg75= | |
| XM_017021312.2:c.-50A>C | XP_016876801.1:n.-50A>C | |
| XM_017021313.1:c.-50A>C | XP_016876802.1:n.-50A>C | |
| XR_001750326.2:n.388A>C | ||
| XR_001750327.2:n.388A>C | ||
| XR_002957553.1:n.418A>C | ||
| XR_943450.3:n.427A>C | ||
| XR_943451.3:n.427A>C | ||
| XR_943452.3:n.388A>C | ||
| NM_001320415.2:c.-50A>C | NP_001307344.1:n.-50A>C | |
| NM_002382.5:c.225A>C MANE Select | NP_002373.3:p.Arg75= | |
| NM_145112.3:c.198A>C | NP_660087.1:p.Arg66= | |
| NM_145113.3:c.225A>C | NP_660088.1:p.Arg75= | |
| NM_001271069.2:c.144+15725A>C | NP_001257998.1:n.144+15725A>C | |
| NM_197957.4:c.171+15725A>C | NP_932061.1:n.171+15725A>C |