Linked Data
ClinVar Variation Id:
2840788
ClinVar RCV Id:
RCV003718694
gnomAD v4:
1-56881478-T-C
MyVariant Identifiers:
chr1:g.57347151T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56881478T>C , CM000663.2:g.56881478T>C | GRCh38 |
| NC_000001.10:g.57347151T>C , CM000663.1:g.57347151T>C | GRCh37 |
| NC_000001.9:g.57119739T>C | NCBI36 |
| NG_012049.1:g.31709T>C , LRG_139:g.31709T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.599-2003T>C | ||
| ENST00000695677.1:c.498T>C | ENSP00000512097.1:p.Ser166= | |
| ENST00000695678.1:c.498T>C | ENSP00000512098.1:p.Ser166= | |
| ENST00000695679.1:c.465-2003T>C | ENSP00000512099.1:n.465-2003T>C | |
| ENST00000695680.1:n.604T>C | ||
| ENST00000695681.1:c.498T>C | ENSP00000512100.1:p.Ser166= | |
| ENST00000695682.1:n.592T>C | ||
| ENST00000695683.1:n.529T>C | ||
| ENST00000695685.1:n.449T>C | ||
| ENST00000695686.1:n.104T>C | ||
| ENST00000695723.1:c.498T>C | ENSP00000512121.1:p.Ser166= | |
| ENST00000361249.4:c.498T>C MANE Select | ENSP00000354458.3:p.Ser166= | |
| ENST00000361249.3:c.498T>C | ENSP00000354458.3:p.Ser166= | |
| NM_000562.2:c.498T>C , LRG_139t1:c.498T>C | NP_000553.1:p.Ser166= | |
| XM_011542079.1:c.498T>C | XP_011540381.1:p.Ser166= | |
| XM_011542079.2:c.498T>C | XP_011540381.1:p.Ser166= | |
| XM_017002234.1:c.498T>C | XP_016857723.1:p.Ser166= | |
| NM_000562.3:c.498T>C MANE Select | NP_000553.1:p.Ser166= |