Linked Data
ClinVar Variation Id:
2733807
ClinVar RCV Id:
RCV003562203
MyVariant Identifiers:
chr7:g.97481583A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97852271A>T , CM000669.2:g.97852271A>T | GRCh38 |
| NC_000007.13:g.97481583A>T , CM000669.1:g.97481583A>T | GRCh37 |
| NC_000007.12:g.97319519A>T | NCBI36 |
| NG_033870.1:g.25272T>A | |
| NG_033870.2:g.81292T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394308.8:c.1674T>A MANE Select | ENSP00000377845.3:p.Ala558= | |
| ENST00000175506.8:c.1674T>A | ENSP00000175506.4:p.Ala558= | |
| ENST00000394308.7:c.1674T>A | ENSP00000377845.3:p.Ala558= | |
| ENST00000394309.7:c.1674T>A | ENSP00000377846.3:p.Ala558= | |
| ENST00000422745.5:c.1611T>A | ENSP00000414901.1:p.Ala537= | |
| ENST00000437628.5:c.1425T>A | ENSP00000414379.1:p.Ala475= | |
| ENST00000444334.5:c.1611T>A | ENSP00000406994.1:p.Ala537= | |
| ENST00000454046.5:c.*542T>A | ENSP00000401651.1:n.*542T>A | |
| ENST00000455086.5:c.1425T>A | ENSP00000408472.1:p.Ala475= | |
| NM_001178075.1:c.1611T>A | NP_001171546.1:p.Ala537= | |
| NM_001178076.1:c.1425T>A | NP_001171547.1:p.Ala475= | |
| NM_001178077.1:c.1425T>A | NP_001171548.1:p.Ala475= | |
| NM_001673.4:c.1674T>A | NP_001664.3:p.Ala558= | |
| NM_133436.3:c.1674T>A | NP_597680.2:p.Ala558= | |
| NM_183356.3:c.1674T>A | NP_899199.2:p.Ala558= | |
| NM_001352496.1:c.1674T>A | NP_001339425.1:p.Ala558= | |
| NR_147989.1:n.3377T>A | ||
| NM_001673.5:c.1674T>A MANE Select | NP_001664.3:p.Ala558= | |
| NM_001178075.2:c.1611T>A | NP_001171546.1:p.Ala537= | |
| NM_001178076.2:c.1425T>A | NP_001171547.1:p.Ala475= | |
| NM_001352496.2:c.1674T>A | NP_001339425.1:p.Ala558= | |
| NM_183356.4:c.1674T>A | NP_899199.2:p.Ala558= |