Linked Data
ClinVar Variation Id:
668278
ClinVar RCV Id:
RCV000827108
dbSNP Id:
rs1418027264
gnomAD v2:
1-43408927-G-A
gnomAD v4:
1-42943256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943256G>A , CM000663.2:g.42943256G>A | GRCh38 |
| NC_000001.10:g.43408927G>A , CM000663.1:g.43408927G>A | GRCh37 |
| NC_000001.9:g.43181514G>A | NCBI36 |
| NG_008232.1:g.20921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.84C>T MANE Select | ENSP00000416293.2:p.Tyr28= | |
| ENST00000674765.1:c.84C>T | ENSP00000501811.1:p.Tyr28= | |
| ENST00000675112.1:n.107C>T | ||
| ENST00000372500.4:c.19-12050C>T | ENSP00000361578.4:n.19-12050C>T | |
| ENST00000415851.6:n.301C>T | ||
| ENST00000426263.7:c.84C>T | ENSP00000416293.2:p.Tyr28= | |
| ENST00000625233.2:n.292C>T | ||
| ENST00000628173.1:n.303C>T | ||
| ENST00000630287.2:c.84C>T | ENSP00000486694.1:p.Tyr28= | |
| ENST00000630821.1:n.301C>T | ||
| NM_006516.2:c.84C>T | NP_006507.2:p.Tyr28= | |
| NM_006516.3:c.84C>T | NP_006507.2:p.Tyr28= | |
| NM_006516.4:c.84C>T MANE Select | NP_006507.2:p.Tyr28= |