Linked Data
ClinVar Variation Id:
2783622
ClinVar RCV Id:
RCV003666171
gnomAD v4:
3-133775527-G-C
MyVariant Identifiers:
chr3:g.133494371G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775527G>C , CM000665.2:g.133775527G>C | GRCh38 |
| NC_000003.11:g.133494371G>C , CM000665.1:g.133494371G>C | GRCh37 |
| NC_000003.10:g.134977061G>C | NCBI36 |
| NG_013080.1:g.34395G>C | |
| NG_013080.2:g.118530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1782G>C MANE Select | ENSP00000385834.3:p.Ala594= | |
| ENST00000402696.7:c.1782G>C | ENSP00000385834.3:p.Ala594= | |
| ENST00000461695.1:c.513G>C | ||
| ENST00000467842.1:n.2776G>C | ||
| NM_001063.3:c.1782G>C | NP_001054.1:p.Ala594= | |
| XM_011513100.1:c.1782G>C | XP_011511402.1:p.Ala594= | |
| NM_001354703.1:c.1650G>C | NP_001341632.1:p.Ala550= | |
| NM_001354704.1:c.1401G>C | NP_001341633.1:p.Ala467= | |
| NM_001063.4:c.1782G>C MANE Select | NP_001054.2:p.Ala594= | |
| NM_001354703.2:c.1650G>C | NP_001341632.2:p.Ala550= | |
| NM_001354704.2:c.1401G>C | NP_001341633.2:p.Ala467= |