Linked Data
ClinVar Variation Id:
2793
dbSNP Id:
rs137852894
ExAC:
3:81586222 C / T
gnomAD v2:
3-81586222-C-T
gnomAD v4:
3-81537071-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81537071C>T , CM000665.2:g.81537071C>T | GRCh38 |
| NC_000003.11:g.81586222C>T , CM000665.1:g.81586222C>T | GRCh37 |
| NC_000003.10:g.81668912C>T | NCBI36 |
| NG_011810.1:g.229730G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1643G>A MANE Select | ENSP00000410833.2:p.Trp548Ter | |
| ENST00000429644.6:c.1643G>A | ENSP00000410833.2:p.Trp548Ter | |
| ENST00000484687.1:n.44G>A | ||
| ENST00000489715.1:c.1520G>A | ENSP00000419638.1:p.Trp507Ter | |
| NM_000158.3:c.1643G>A | NP_000149.3:p.Trp548Ter | |
| NM_000158.4:c.1643G>A MANE Select | NP_000149.4:p.Trp548Ter |