Linked Data
ClinVar Variation Id:
2632023
ClinVar RCV Id:
RCV003414539
dbSNP Id:
rs143034828
ExAC:
2:25141368 G / C
gnomAD v2:
2-25141368-G-C
gnomAD v3:
2-24918499-G-C
gnomAD v4:
2-24918499-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24918499G>C , CM000664.2:g.24918499G>C | GRCh38 |
| NC_000002.11:g.25141368G>C , CM000664.1:g.25141368G>C | GRCh37 |
| NC_000002.10:g.24994872G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.489C>G | ENSP00000384484.2:p.His163Gln | |
| ENST00000679454.1:c.489C>G MANE Select | ENSP00000505261.1:p.His163Gln | |
| ENST00000260600.9:c.489C>G | ENSP00000260600.5:p.His163Gln | |
| ENST00000405392.5:c.489C>G | ENSP00000384484.2:p.His163Gln | |
| ENST00000435135.5:c.489C>G | ENSP00000389799.1:p.His163Gln | |
| NM_004036.3:c.489C>G | NP_004027.2:p.His163Gln | |
| XM_005264104.1:c.489C>G | XP_005264161.1:p.His163Gln | |
| XM_005264105.1:c.489C>G | XP_005264162.1:p.His163Gln | |
| XM_006711925.1:c.489C>G | XP_006711988.1:p.His163Gln | |
| XM_011532489.1:c.489C>G | XP_011530791.1:p.His163Gln | |
| XM_011532490.1:c.489C>G | XP_011530792.1:p.His163Gln | |
| XM_011532491.1:c.489C>G | XP_011530793.1:p.His163Gln | |
| XM_011532492.1:c.489C>G | XP_011530794.1:p.His163Gln | |
| XM_011532493.1:c.489C>G | XP_011530795.1:p.His163Gln | |
| XM_011532494.1:c.489C>G | XP_011530796.1:p.His163Gln | |
| NM_001320613.1:c.489C>G | NP_001307542.1:p.His163Gln | |
| NM_004036.4:c.489C>G | NP_004027.2:p.His163Gln | |
| XM_011532492.2:c.489C>G | XP_011530794.1:p.His163Gln | |
| XM_017003186.1:c.489C>G | XP_016858675.1:p.His163Gln | |
| XM_017003187.1:c.489C>G | XP_016858676.1:p.His163Gln | |
| XM_017003188.1:c.489C>G | XP_016858677.1:p.His163Gln | |
| XM_017003189.1:c.489C>G | XP_016858678.1:p.His163Gln | |
| XM_017003190.1:c.489C>G | XP_016858679.1:p.His163Gln | |
| NM_001320613.2:c.489C>G | NP_001307542.1:p.His163Gln | |
| NM_001377128.1:c.489C>G | NP_001364057.1:p.His163Gln | |
| NM_001377129.1:c.489C>G | NP_001364058.1:p.His163Gln | |
| NM_001377130.1:c.489C>G | NP_001364059.1:p.His163Gln | |
| NM_001377132.1:c.489C>G | NP_001364061.1:p.His163Gln | |
| NM_004036.5:c.489C>G MANE Select | NP_004027.2:p.His163Gln |