Linked Data
ClinVar Variation Id:
1386206
ClinVar RCV Id:
RCV001881357
dbSNP Id:
rs149510465
ExAC:
16:16244620 C / G
gnomAD v2:
16-16244620-C-G
gnomAD v3:
16-16150763-C-G
gnomAD v4:
16-16150763-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150763C>G , CM000678.2:g.16150763C>G | GRCh38 |
| NC_000016.9:g.16244620C>G , CM000678.1:g.16244620C>G | GRCh37 |
| NC_000016.8:g.16152121C>G | NCBI36 |
| NG_007558.2:g.77709G>C | |
| NG_007558.3:g.77855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*390G>C | ENSP00000483331.2:n.*390G>C | |
| ENST00000205557.12:c.4218G>C MANE Select | ENSP00000205557.7:p.Gln1406His | |
| ENST00000640696.1:c.1032G>C | ENSP00000492197.1:p.Gln344His | |
| ENST00000205557.11:c.4218G>C | ENSP00000205557.7:p.Gln1406His | |
| ENST00000456970.6:c.3843G>C | ENSP00000405002.2:n.3843G>C | |
| ENST00000576204.5:n.1081G>C | ||
| ENST00000622290.4:c.*1427G>C | ENSP00000483331.1:n.*1427G>C | |
| NM_001171.5:c.4218G>C | NP_001162.4:p.Gln1406His | |
| XM_011522479.1:c.4185G>C | XP_011520781.1:p.Gln1395His | |
| XM_011522480.1:c.3876G>C | XP_011520782.1:p.Gln1292His | |
| XM_011522481.1:c.3876G>C | XP_011520783.1:p.Gln1292His | |
| XR_933134.1:n.538+6473C>G | ||
| NM_001351800.1:c.3876G>C | NP_001338729.1:p.Gln1292His | |
| NR_147784.1:n.3880G>C | ||
| XM_011522479.2:c.4185G>C | XP_011520781.1:p.Gln1395His | |
| XM_011522481.3:c.3876G>C | XP_011520783.1:p.Gln1292His | |
| XM_017023212.1:c.4050G>C | XP_016878701.1:p.Gln1350His | |
| XM_024450261.1:c.4254G>C | XP_024306029.1:p.Gln1418His | |
| NM_001171.6:c.4218G>C MANE Select | NP_001162.5:p.Gln1406His |