Linked Data
ClinVar Variation Id:
433294
dbSNP Id:
rs72653749
ExAC:
16:16251579 G / A
gnomAD v2:
16-16251579-G-A
gnomAD v3:
16-16157722-G-A
gnomAD v4:
16-16157722-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157722G>A , CM000678.2:g.16157722G>A | GRCh38 |
| NC_000016.9:g.16251579G>A , CM000678.1:g.16251579G>A | GRCh37 |
| NC_000016.8:g.16159080G>A | NCBI36 |
| NG_007558.2:g.70750C>T | |
| NG_007558.3:g.70896C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3823C>T | ENSP00000483331.2:p.Arg1275Ter | |
| ENST00000205557.12:c.3823C>T MANE Select | ENSP00000205557.7:p.Arg1275Ter | |
| ENST00000640696.1:c.637C>T | ENSP00000492197.1:p.Arg213Ter | |
| ENST00000205557.11:c.3823C>T | ENSP00000205557.7:p.Arg1275Ter | |
| ENST00000456970.6:c.3448C>T | ENSP00000405002.2:n.3448C>T | |
| ENST00000622290.4:c.*1032C>T | ENSP00000483331.1:n.*1032C>T | |
| NM_001171.5:c.3823C>T | NP_001162.4:p.Arg1275Ter | |
| XM_011522479.1:c.3790C>T | XP_011520781.1:p.Arg1264Ter | |
| XM_011522480.1:c.3481C>T | XP_011520782.1:p.Arg1161Ter | |
| XM_011522481.1:c.3481C>T | XP_011520783.1:p.Arg1161Ter | |
| XR_932836.1:n.4058C>T | ||
| XR_932837.1:n.3859C>T | ||
| XR_932838.1:n.3859C>T | ||
| XR_933134.1:n.539-2059G>A | ||
| NM_001351800.1:c.3481C>T | NP_001338729.1:p.Arg1161Ter | |
| NR_147784.1:n.3485C>T | ||
| XM_011522479.2:c.3790C>T | XP_011520781.1:p.Arg1264Ter | |
| XM_011522481.3:c.3481C>T | XP_011520783.1:p.Arg1161Ter | |
| XM_017023212.1:c.3655C>T | XP_016878701.1:p.Arg1219Ter | |
| XM_024450261.1:c.3859C>T | XP_024306029.1:p.Arg1287Ter | |
| XR_932836.2:n.4004C>T | ||
| XR_932837.3:n.3804C>T | ||
| XR_932838.3:n.3804C>T | ||
| NM_001171.6:c.3823C>T MANE Select | NP_001162.5:p.Arg1275Ter |