Linked Data
ClinVar Variation Id:
1591618
ClinVar RCV Id:
RCV002096294
dbSNP Id:
rs60320257
ExAC:
16:16248775 G / C
gnomAD v2:
16-16248775-G-C
gnomAD v3:
16-16154918-G-C
gnomAD v4:
16-16154918-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154918G>C , CM000678.2:g.16154918G>C | GRCh38 |
| NC_000016.9:g.16248775G>C , CM000678.1:g.16248775G>C | GRCh37 |
| NC_000016.8:g.16156276G>C | NCBI36 |
| NG_007558.2:g.73554C>G | |
| NG_007558.3:g.73700C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.859C>G | ||
| ENST00000622290.5:c.*168C>G | ENSP00000483331.2:n.*168C>G | |
| ENST00000205557.12:c.3996C>G MANE Select | ENSP00000205557.7:p.His1332Gln | |
| ENST00000640696.1:c.810C>G | ENSP00000492197.1:p.His270Gln | |
| ENST00000205557.11:c.3996C>G | ENSP00000205557.7:p.His1332Gln | |
| ENST00000456970.6:c.3621C>G | ENSP00000405002.2:n.3621C>G | |
| ENST00000576204.5:n.859C>G | ||
| ENST00000622290.4:c.*1205C>G | ENSP00000483331.1:n.*1205C>G | |
| NM_001171.5:c.3996C>G | NP_001162.4:p.His1332Gln | |
| XM_011522479.1:c.3963C>G | XP_011520781.1:p.His1321Gln | |
| XM_011522480.1:c.3654C>G | XP_011520782.1:p.His1218Gln | |
| XM_011522481.1:c.3654C>G | XP_011520783.1:p.His1218Gln | |
| XR_933134.1:n.539-4863G>C | ||
| NM_001351800.1:c.3654C>G | NP_001338729.1:p.His1218Gln | |
| NR_147784.1:n.3658C>G | ||
| XM_011522479.2:c.3963C>G | XP_011520781.1:p.His1321Gln | |
| XM_011522481.3:c.3654C>G | XP_011520783.1:p.His1218Gln | |
| XM_017023212.1:c.3828C>G | XP_016878701.1:p.His1276Gln | |
| XM_024450261.1:c.4032C>G | XP_024306029.1:p.His1344Gln | |
| NM_001171.6:c.3996C>G MANE Select | NP_001162.5:p.His1332Gln |