Linked Data
ClinVar Variation Id:
2050279
ClinVar RCV Id:
RCV002937534
dbSNP Id:
rs776891665
ExAC:
16:16244436 G / C
gnomAD v2:
16-16244436-G-C
gnomAD v3:
16-16150579-G-C
gnomAD v4:
16-16150579-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150579G>C , CM000678.2:g.16150579G>C | GRCh38 |
| NC_000016.9:g.16244436G>C , CM000678.1:g.16244436G>C | GRCh37 |
| NC_000016.8:g.16151937G>C | NCBI36 |
| NG_007558.2:g.77893C>G | |
| NG_007558.3:g.78039C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*574C>G | ENSP00000483331.2:n.*574C>G | |
| ENST00000205557.12:c.4402C>G MANE Select | ENSP00000205557.7:p.Arg1468Gly | |
| ENST00000640696.1:c.1216C>G | ENSP00000492197.1:p.Arg406Gly | |
| ENST00000205557.11:c.4402C>G | ENSP00000205557.7:p.Arg1468Gly | |
| ENST00000456970.6:c.4027C>G | ENSP00000405002.2:n.4027C>G | |
| ENST00000576204.5:n.1265C>G | ||
| ENST00000622290.4:c.*1611C>G | ENSP00000483331.1:n.*1611C>G | |
| NM_001171.5:c.4402C>G | NP_001162.4:p.Arg1468Gly | |
| XM_011522479.1:c.4369C>G | XP_011520781.1:p.Arg1457Gly | |
| XM_011522480.1:c.4060C>G | XP_011520782.1:p.Arg1354Gly | |
| XM_011522481.1:c.4060C>G | XP_011520783.1:p.Arg1354Gly | |
| XR_933134.1:n.538+6289G>C | ||
| NM_001351800.1:c.4060C>G | NP_001338729.1:p.Arg1354Gly | |
| NR_147784.1:n.4064C>G | ||
| XM_011522479.2:c.4369C>G | XP_011520781.1:p.Arg1457Gly | |
| XM_011522481.3:c.4060C>G | XP_011520783.1:p.Arg1354Gly | |
| XM_017023212.1:c.4234C>G | XP_016878701.1:p.Arg1412Gly | |
| XM_024450261.1:c.4438C>G | XP_024306029.1:p.Arg1480Gly | |
| NM_001171.6:c.4402C>G MANE Select | NP_001162.5:p.Arg1468Gly |