Linked Data
ClinVar Variation Id:
845821
ClinVar RCV Id:
RCV001048963
dbSNP Id:
rs575897563
ExAC:
2:32476388 A / G
gnomAD v2:
2-32476388-A-G
gnomAD v3:
2-32251319-A-G
gnomAD v4:
2-32251319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251319A>G , CM000664.2:g.32251319A>G | GRCh38 |
| NC_000002.11:g.32476388A>G , CM000664.1:g.32476388A>G | GRCh37 |
| NC_000002.10:g.32329892A>G | NCBI36 |
| NG_041780.1:g.19425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5456T>C | ENSP00000498301.2:n.-76+5456T>C | |
| ENST00000402280.6:c.545T>C MANE Select | ENSP00000385428.1:p.Ile182Thr | |
| ENST00000404025.3:c.545T>C | ENSP00000385090.3:p.Ile182Thr | |
| ENST00000652197.1:c.545T>C | ENSP00000498301.1:p.Ile182Thr | |
| ENST00000342905.10:c.262+1100T>C | ENSP00000339666.6:n.262+1100T>C | |
| ENST00000360906.9:c.545T>C | ENSP00000354159.5:p.Ile182Thr | |
| ENST00000402280.5:c.545T>C | ENSP00000385428.1:p.Ile182Thr | |
| ENST00000404025.2:c.545T>C | ENSP00000385090.2:p.Ile182Thr | |
| NM_001199138.1:c.545T>C | NP_001186067.1:p.Ile182Thr | |
| NM_001199139.1:c.545T>C | NP_001186068.1:p.Ile182Thr | |
| NM_001302504.1:c.262+1100T>C | NP_001289433.1:n.262+1100T>C | |
| NM_021209.4:c.545T>C | NP_067032.3:p.Ile182Thr | |
| XM_011533008.1:c.545T>C | XP_011531310.1:p.Ile182Thr | |
| XM_017004619.1:c.545T>C | XP_016860108.1:p.Ile182Thr | |
| XR_001738872.1:n.806T>C | ||
| NM_001199138.2:c.545T>C MANE Select | NP_001186067.1:p.Ile182Thr |