Linked Data
ClinVar Variation Id:
1731618
ClinVar RCV Id:
RCV002457237
dbSNP Id:
rs1414936007
gnomAD v2:
14-65543332-G-A
gnomAD v3:
14-65076614-G-A
gnomAD v4:
14-65076614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076614G>A , CM000676.2:g.65076614G>A | GRCh38 |
| NC_000014.8:g.65543332G>A , CM000676.1:g.65543332G>A | GRCh37 |
| NC_000014.7:g.64613085G>A | NCBI36 |
| NG_029830.1:g.30896C>T , LRG_530:g.30896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.126C>T | ENSP00000452206.2:p.Tyr42= | |
| ENST00000556979.6:c.*798C>T | ENSP00000452378.1:n.*798C>T | |
| ENST00000358664.9:c.345C>T MANE Select | ENSP00000351490.4:p.Tyr115= | |
| ENST00000651648.1:c.145-6245C>T | ENSP00000498863.1:n.145-6245C>T | |
| ENST00000284165.10:c.*1189C>T | ENSP00000284165.6:n.*1189C>T | |
| ENST00000341653.6:c.171+17094C>T | ENSP00000342482.2:n.171+17094C>T | |
| ENST00000358402.8:c.318C>T | ENSP00000351175.4:p.Tyr106= | |
| ENST00000358664.8:c.345C>T | ENSP00000351490.4:p.Tyr115= | |
| ENST00000394606.6:c.*118C>T | ENSP00000378104.2:n.*118C>T | |
| ENST00000553928.5:c.*134C>T | ENSP00000451907.1:n.*134C>T | |
| ENST00000555419.5:c.237C>T | ENSP00000452405.1:p.Tyr79= | |
| ENST00000555932.5:c.86C>T | ENSP00000450763.1:p.Thr29Ile | |
| ENST00000556892.5:c.126C>T | ENSP00000452206.1:p.Tyr42= | |
| ENST00000557277.5:c.156C>T | ENSP00000450955.1:p.Tyr52= | |
| ENST00000618858.4:c.*134C>T | ENSP00000480127.1:n.*134C>T | |
| NM_001271069.1:c.144+17094C>T | NP_001257998.1:n.144+17094C>T | |
| NM_002382.4:c.345C>T | NP_002373.3:p.Tyr115= | |
| NM_145112.2:c.318C>T | NP_660087.1:p.Tyr106= | |
| NM_145113.2:c.*134C>T | NP_660088.1:n.*134C>T | |
| NM_197957.3:c.171+17094C>T | NP_932061.1:n.171+17094C>T | |
| NR_073137.1:n.469C>T | ||
| XR_429315.2:n.632C>T | ||
| XR_943450.1:n.713C>T | ||
| XR_943451.1:n.729C>T | ||
| XR_943452.1:n.675C>T | ||
| NM_001320415.1:c.156C>T | NP_001307344.1:p.Tyr52= | |
| XM_017021312.2:c.156C>T | XP_016876801.1:p.Tyr52= | |
| XM_017021313.1:c.156C>T | XP_016876802.1:p.Tyr52= | |
| XR_001750326.2:n.690C>T | ||
| XR_001750327.2:n.609C>T | ||
| XR_002957553.1:n.1123C>T | ||
| XR_943450.3:n.713C>T | ||
| XR_943451.3:n.729C>T | ||
| XR_943452.3:n.674C>T | ||
| NM_001320415.2:c.156C>T | NP_001307344.1:p.Tyr52= | |
| NM_002382.5:c.345C>T MANE Select | NP_002373.3:p.Tyr115= | |
| NM_145112.3:c.318C>T | NP_660087.1:p.Tyr106= | |
| NM_145113.3:c.*134C>T | NP_660088.1:n.*134C>T | |
| NM_001271069.2:c.144+17094C>T | NP_001257998.1:n.144+17094C>T | |
| NM_197957.4:c.171+17094C>T | NP_932061.1:n.171+17094C>T |