Linked Data
ClinVar Variation Id:
2729796
ClinVar RCV Id:
RCV003577993
dbSNP Id:
rs756570314
ExAC:
3:133494368 T / C
gnomAD v2:
3-133494368-T-C
gnomAD v4:
3-133775524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775524T>C , CM000665.2:g.133775524T>C | GRCh38 |
| NC_000003.11:g.133494368T>C , CM000665.1:g.133494368T>C | GRCh37 |
| NC_000003.10:g.134977058T>C | NCBI36 |
| NG_013080.1:g.34392T>C | |
| NG_013080.2:g.118527T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1779T>C MANE Select | ENSP00000385834.3:p.Tyr593= | |
| ENST00000402696.7:c.1779T>C | ENSP00000385834.3:p.Tyr593= | |
| ENST00000461695.1:c.510T>C | ||
| ENST00000467842.1:n.2773T>C | ||
| NM_001063.3:c.1779T>C | NP_001054.1:p.Tyr593= | |
| XM_011513100.1:c.1779T>C | XP_011511402.1:p.Tyr593= | |
| NM_001354703.1:c.1647T>C | NP_001341632.1:p.Tyr549= | |
| NM_001354704.1:c.1398T>C | NP_001341633.1:p.Tyr466= | |
| NM_001063.4:c.1779T>C MANE Select | NP_001054.2:p.Tyr593= | |
| NM_001354703.2:c.1647T>C | NP_001341632.2:p.Tyr549= | |
| NM_001354704.2:c.1398T>C | NP_001341633.2:p.Tyr466= |