Linked Data
ClinVar Variation Id:
526348
dbSNP Id:
rs760126773
ExAC:
16:3644477 G / A
gnomAD v2:
16-3644477-G-A
gnomAD v3:
16-3594476-G-A
gnomAD v4:
16-3594476-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3594476G>A , CM000678.2:g.3594476G>A | GRCh38 |
| NC_000016.9:g.3644477G>A , CM000678.1:g.3644477G>A | GRCh37 |
| NC_000016.8:g.3584478G>A | NCBI36 |
| NG_028123.1:g.22109C>T , LRG_503:g.22109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.2137C>T MANE Select | ENSP00000294008.3:p.Arg713Ter | |
| ENST00000294008.3:c.2137C>T | ENSP00000294008.3:p.Arg713Ter | |
| NM_032444.2:c.2137C>T , LRG_503t1:c.2137C>T | NP_115820.2:p.Arg713Ter | |
| XM_011522715.1:c.2137C>T | XP_011521017.1:p.Arg713Ter | |
| NM_032444.3:c.2137C>T | NP_115820.2:p.Arg713Ter | |
| XM_011522715.3:c.2137C>T | XP_011521017.1:p.Arg713Ter | |
| XM_017023775.2:c.1315C>T | XP_016879264.1:p.Arg439Ter | |
| XM_024450471.1:c.2137C>T | XP_024306239.1:p.Arg713Ter | |
| NM_032444.4:c.2137C>T MANE Select | NP_115820.2:p.Arg713Ter |