Linked Data
ClinVar Variation Id:
377153
ClinVar RCV Id:
RCV000442124
dbSNP Id:
rs143511416
ExAC:
2:197081790 C / T
gnomAD v2:
2-197081790-C-T
gnomAD v3:
2-196217066-C-T
gnomAD v4:
2-196217066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196217066C>T , CM000664.2:g.196217066C>T | GRCh38 |
| NC_000002.11:g.197081790C>T , CM000664.1:g.197081790C>T | GRCh37 |
| NC_000002.10:g.196790035C>T | NCBI36 |
| NG_053156.1:g.381627G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260983.8:c.4436G>A | ENSP00000260983.2:p.Arg1479Gln | |
| ENST00000642318.1:n.1194G>A | ||
| ENST00000644030.1:c.4457G>A | ENSP00000495504.1:p.Arg1486Gln | |
| ENST00000644256.1:c.4436G>A | ENSP00000494649.1:p.Arg1479Gln | |
| ENST00000644421.1:c.2160G>A | ||
| ENST00000644978.2:c.4436G>A MANE Select | ENSP00000495418.1:p.Arg1479Gln | |
| ENST00000647236.1:c.*3622G>A | ENSP00000494800.1:n.*3622G>A | |
| ENST00000260983.7:c.4436G>A | ENSP00000260983.2:p.Arg1479Gln | |
| ENST00000409111.2:c.3368G>A | ENSP00000386775.1:p.Arg1123Gln | |
| NM_001304840.1:c.3368G>A | NP_001291769.1:p.Arg1123Gln | |
| NM_020760.2:c.4436G>A | NP_065811.1:p.Arg1479Gln | |
| XM_006712646.2:c.4457G>A | XP_006712709.1:p.Arg1486Gln | |
| XM_006712648.2:c.4064G>A | XP_006712711.1:p.Arg1355Gln | |
| NM_001304840.2:c.3368G>A | NP_001291769.1:p.Arg1123Gln | |
| NM_001348768.1:c.4436G>A | NP_001335697.1:p.Arg1479Gln | |
| NM_020760.3:c.4436G>A | NP_065811.1:p.Arg1479Gln | |
| XM_006712646.3:c.4457G>A | XP_006712709.1:p.Arg1486Gln | |
| XM_006712648.4:c.4064G>A | XP_006712711.1:p.Arg1355Gln | |
| XM_024453020.1:c.4457G>A | XP_024308788.1:p.Arg1486Gln | |
| XM_024453021.1:c.4457G>A | XP_024308789.1:p.Arg1486Gln | |
| NM_001348768.2:c.4436G>A MANE Select | NP_001335697.1:p.Arg1479Gln | |
| NM_001304840.3:c.3368G>A | NP_001291769.1:p.Arg1123Gln | |
| NM_020760.4:c.4436G>A | NP_065811.1:p.Arg1479Gln |