Linked Data
ClinVar Variation Id:
2011293
ClinVar RCV Id:
RCV002829392
dbSNP Id:
rs145657754
gnomAD v2:
14-65543334-A-G
gnomAD v3:
14-65076616-A-G
gnomAD v4:
14-65076616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076616A>G , CM000676.2:g.65076616A>G | GRCh38 |
| NC_000014.8:g.65543334A>G , CM000676.1:g.65543334A>G | GRCh37 |
| NC_000014.7:g.64613087A>G | NCBI36 |
| NG_029830.1:g.30894T>C , LRG_530:g.30894T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.124T>C | ENSP00000452206.2:p.Tyr42His | |
| ENST00000556979.6:c.*796T>C | ENSP00000452378.1:n.*796T>C | |
| ENST00000358664.9:c.343T>C MANE Select | ENSP00000351490.4:p.Tyr115His | |
| ENST00000651648.1:c.145-6247T>C | ENSP00000498863.1:n.145-6247T>C | |
| ENST00000284165.10:c.*1187T>C | ENSP00000284165.6:n.*1187T>C | |
| ENST00000341653.6:c.171+17092T>C | ENSP00000342482.2:n.171+17092T>C | |
| ENST00000358402.8:c.316T>C | ENSP00000351175.4:p.Tyr106His | |
| ENST00000358664.8:c.343T>C | ENSP00000351490.4:p.Tyr115His | |
| ENST00000394606.6:c.*116T>C | ENSP00000378104.2:n.*116T>C | |
| ENST00000553928.5:c.*132T>C | ENSP00000451907.1:n.*132T>C | |
| ENST00000555419.5:c.235T>C | ENSP00000452405.1:p.Tyr79His | |
| ENST00000555932.5:c.84T>C | ENSP00000450763.1:p.Thr28= | |
| ENST00000556892.5:c.124T>C | ENSP00000452206.1:p.Tyr42His | |
| ENST00000557277.5:c.154T>C | ENSP00000450955.1:p.Tyr52His | |
| ENST00000618858.4:c.*132T>C | ENSP00000480127.1:n.*132T>C | |
| NM_001271069.1:c.144+17092T>C | NP_001257998.1:n.144+17092T>C | |
| NM_002382.4:c.343T>C | NP_002373.3:p.Tyr115His | |
| NM_145112.2:c.316T>C | NP_660087.1:p.Tyr106His | |
| NM_145113.2:c.*132T>C | NP_660088.1:n.*132T>C | |
| NM_197957.3:c.171+17092T>C | NP_932061.1:n.171+17092T>C | |
| NR_073137.1:n.467T>C | ||
| XR_429315.2:n.630T>C | ||
| XR_943450.1:n.711T>C | ||
| XR_943451.1:n.727T>C | ||
| XR_943452.1:n.673T>C | ||
| NM_001320415.1:c.154T>C | NP_001307344.1:p.Tyr52His | |
| XM_017021312.2:c.154T>C | XP_016876801.1:p.Tyr52His | |
| XM_017021313.1:c.154T>C | XP_016876802.1:p.Tyr52His | |
| XR_001750326.2:n.688T>C | ||
| XR_001750327.2:n.607T>C | ||
| XR_002957553.1:n.1121T>C | ||
| XR_943450.3:n.711T>C | ||
| XR_943451.3:n.727T>C | ||
| XR_943452.3:n.672T>C | ||
| NM_001320415.2:c.154T>C | NP_001307344.1:p.Tyr52His | |
| NM_002382.5:c.343T>C MANE Select | NP_002373.3:p.Tyr115His | |
| NM_145112.3:c.316T>C | NP_660087.1:p.Tyr106His | |
| NM_145113.3:c.*132T>C | NP_660088.1:n.*132T>C | |
| NM_001271069.2:c.144+17092T>C | NP_001257998.1:n.144+17092T>C | |
| NM_197957.4:c.171+17092T>C | NP_932061.1:n.171+17092T>C |