Linked Data
ClinVar Variation Id:
485704
dbSNP Id:
rs201312694
ExAC:
14:65543274 C / T
gnomAD v2:
14-65543274-C-T
gnomAD v4:
14-65076556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076556C>T , CM000676.2:g.65076556C>T | GRCh38 |
| NC_000014.8:g.65543274C>T , CM000676.1:g.65543274C>T | GRCh37 |
| NC_000014.7:g.64613027C>T | NCBI36 |
| NG_029830.1:g.30954G>A , LRG_530:g.30954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.184G>A | ENSP00000452206.2:p.Asp62Asn | |
| ENST00000556979.6:c.*856G>A | ENSP00000452378.1:n.*856G>A | |
| ENST00000358664.9:c.403G>A MANE Select | ENSP00000351490.4:p.Asp135Asn | |
| ENST00000651648.1:c.145-6187G>A | ENSP00000498863.1:n.145-6187G>A | |
| ENST00000284165.10:c.*1247G>A | ENSP00000284165.6:n.*1247G>A | |
| ENST00000341653.6:c.171+17152G>A | ENSP00000342482.2:n.171+17152G>A | |
| ENST00000358402.8:c.376G>A | ENSP00000351175.4:p.Asp126Asn | |
| ENST00000358664.8:c.403G>A | ENSP00000351490.4:p.Asp135Asn | |
| ENST00000394606.6:c.*176G>A | ENSP00000378104.2:n.*176G>A | |
| ENST00000553928.5:c.*192G>A | ENSP00000451907.1:n.*192G>A | |
| ENST00000555419.5:c.295G>A | ENSP00000452405.1:p.Asp99Asn | |
| ENST00000555932.5:c.144G>A | ENSP00000450763.1:p.Ser48= | |
| ENST00000557277.5:c.214G>A | ENSP00000450955.1:p.Asp72Asn | |
| ENST00000618858.4:c.*192G>A | ENSP00000480127.1:n.*192G>A | |
| NM_001271069.1:c.144+17152G>A | NP_001257998.1:n.144+17152G>A | |
| NM_002382.4:c.403G>A | NP_002373.3:p.Asp135Asn | |
| NM_145112.2:c.376G>A | NP_660087.1:p.Asp126Asn | |
| NM_145113.2:c.*192G>A | NP_660088.1:n.*192G>A | |
| NM_197957.3:c.171+17152G>A | NP_932061.1:n.171+17152G>A | |
| NR_073137.1:n.527G>A | ||
| XR_429315.2:n.690G>A | ||
| NM_001320415.1:c.214G>A | NP_001307344.1:p.Asp72Asn | |
| XM_017021312.2:c.214G>A | XP_016876801.1:p.Asp72Asn | |
| XM_017021313.1:c.214G>A | XP_016876802.1:p.Asp72Asn | |
| XR_001750326.2:n.748G>A | ||
| XR_001750327.2:n.667G>A | ||
| XR_002957553.1:n.1181G>A | ||
| XR_943450.3:n.771G>A | ||
| XR_943451.3:n.787G>A | ||
| XR_943452.3:n.732G>A | ||
| NM_001320415.2:c.214G>A | NP_001307344.1:p.Asp72Asn | |
| NM_002382.5:c.403G>A MANE Select | NP_002373.3:p.Asp135Asn | |
| NM_145112.3:c.376G>A | NP_660087.1:p.Asp126Asn | |
| NM_145113.3:c.*192G>A | NP_660088.1:n.*192G>A | |
| NM_001271069.2:c.144+17152G>A | NP_001257998.1:n.144+17152G>A | |
| NM_197957.4:c.171+17152G>A | NP_932061.1:n.171+17152G>A |