Linked Data
ClinVar Variation Id:
1162959
ClinVar RCV Id:
RCV001507626
dbSNP Id:
rs375013715
ExAC:
3:81627165 G / A
gnomAD v2:
3-81627165-G-A
gnomAD v3:
3-81578014-G-A
gnomAD v4:
3-81578014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578014G>A , CM000665.2:g.81578014G>A | GRCh38 |
| NC_000003.11:g.81627165G>A , CM000665.1:g.81627165G>A | GRCh37 |
| NC_000003.10:g.81709855G>A | NCBI36 |
| NG_011810.1:g.188787C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1529C>T MANE Select | ENSP00000410833.2:p.Thr510Ile | |
| ENST00000429644.6:c.1529C>T | ENSP00000410833.2:p.Thr510Ile | |
| ENST00000489715.1:c.1406C>T | ENSP00000419638.1:p.Thr469Ile | |
| NM_000158.3:c.1529C>T | NP_000149.3:p.Thr510Ile | |
| NM_000158.4:c.1529C>T MANE Select | NP_000149.4:p.Thr510Ile |