Linked Data
ClinVar Variation Id:
532531
dbSNP Id:
rs765370870
ExAC:
14:65543275 G / A
gnomAD v2:
14-65543275-G-A
gnomAD v4:
14-65076557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076557G>A , CM000676.2:g.65076557G>A | GRCh38 |
| NC_000014.8:g.65543275G>A , CM000676.1:g.65543275G>A | GRCh37 |
| NC_000014.7:g.64613028G>A | NCBI36 |
| NG_029830.1:g.30953C>T , LRG_530:g.30953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.183C>T | ENSP00000452206.2:p.Phe61= | |
| ENST00000556979.6:c.*855C>T | ENSP00000452378.1:n.*855C>T | |
| ENST00000358664.9:c.402C>T MANE Select | ENSP00000351490.4:p.Phe134= | |
| ENST00000651648.1:c.145-6188C>T | ENSP00000498863.1:n.145-6188C>T | |
| ENST00000284165.10:c.*1246C>T | ENSP00000284165.6:n.*1246C>T | |
| ENST00000341653.6:c.171+17151C>T | ENSP00000342482.2:n.171+17151C>T | |
| ENST00000358402.8:c.375C>T | ENSP00000351175.4:p.Phe125= | |
| ENST00000358664.8:c.402C>T | ENSP00000351490.4:p.Phe134= | |
| ENST00000394606.6:c.*175C>T | ENSP00000378104.2:n.*175C>T | |
| ENST00000553928.5:c.*191C>T | ENSP00000451907.1:n.*191C>T | |
| ENST00000555419.5:c.294C>T | ENSP00000452405.1:p.Phe98= | |
| ENST00000555932.5:c.143C>T | ENSP00000450763.1:p.Ser48Leu | |
| ENST00000557277.5:c.213C>T | ENSP00000450955.1:p.Phe71= | |
| ENST00000618858.4:c.*191C>T | ENSP00000480127.1:n.*191C>T | |
| NM_001271069.1:c.144+17151C>T | NP_001257998.1:n.144+17151C>T | |
| NM_002382.4:c.402C>T | NP_002373.3:p.Phe134= | |
| NM_145112.2:c.375C>T | NP_660087.1:p.Phe125= | |
| NM_145113.2:c.*191C>T | NP_660088.1:n.*191C>T | |
| NM_197957.3:c.171+17151C>T | NP_932061.1:n.171+17151C>T | |
| NR_073137.1:n.526C>T | ||
| XR_429315.2:n.689C>T | ||
| NM_001320415.1:c.213C>T | NP_001307344.1:p.Phe71= | |
| XM_017021312.2:c.213C>T | XP_016876801.1:p.Phe71= | |
| XM_017021313.1:c.213C>T | XP_016876802.1:p.Phe71= | |
| XR_001750326.2:n.747C>T | ||
| XR_001750327.2:n.666C>T | ||
| XR_002957553.1:n.1180C>T | ||
| XR_943450.3:n.770C>T | ||
| XR_943451.3:n.786C>T | ||
| XR_943452.3:n.731C>T | ||
| NM_001320415.2:c.213C>T | NP_001307344.1:p.Phe71= | |
| NM_002382.5:c.402C>T MANE Select | NP_002373.3:p.Phe134= | |
| NM_145112.3:c.375C>T | NP_660087.1:p.Phe125= | |
| NM_145113.3:c.*191C>T | NP_660088.1:n.*191C>T | |
| NM_001271069.2:c.144+17151C>T | NP_001257998.1:n.144+17151C>T | |
| NM_197957.4:c.171+17151C>T | NP_932061.1:n.171+17151C>T |