Linked Data
ClinVar Variation Id:
1278322
ClinVar RCV Id:
RCV001695063
dbSNP Id:
rs12303082
ExAC:
12:50754563 T / G
gnomAD v2:
12-50754563-T-G
gnomAD v3:
12-50360780-T-G
gnomAD v4:
12-50360780-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50360780T>G , CM000674.2:g.50360780T>G | GRCh38 |
| NC_000012.11:g.50754563T>G , CM000674.1:g.50754563T>G | GRCh37 |
| NC_000012.10:g.49040830T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327337.6:c.559A>C MANE Select | ENSP00000329995.5:p.Lys187Gln | |
| ENST00000327337.5:c.559A>C | ENSP00000329995.5:p.Lys187Gln | |
| ENST00000543111.5:c.559A>C | ENSP00000441337.1:p.Lys187Gln | |
| NM_001145475.1:c.559A>C | NP_001138947.1:p.Lys187Gln | |
| XM_006719231.2:c.559A>C | XP_006719294.1:p.Lys187Gln | |
| XM_011537890.1:c.559A>C | XP_011536192.1:p.Lys187Gln | |
| XM_011537891.1:c.412+2365A>C | XP_011536193.1:n.412+2365A>C | |
| XM_011537892.1:c.130A>C | XP_011536194.1:p.Lys44Gln | |
| NM_001145475.2:c.559A>C | NP_001138947.1:p.Lys187Gln | |
| XM_006719231.3:c.559A>C | XP_006719294.1:p.Lys187Gln | |
| XM_011537890.2:c.559A>C | XP_011536192.1:p.Lys187Gln | |
| NM_001145475.3:c.559A>C MANE Select | NP_001138947.1:p.Lys187Gln |