Linked Data
ClinVar Variation Id:
2807265
ClinVar RCV Id:
RCV003625127
MyVariant Identifiers:
chr1:g.156834535T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156864743T>C , CM000663.2:g.156864743T>C | GRCh38 |
| NC_000001.10:g.156834535T>C , CM000663.1:g.156834535T>C | GRCh37 |
| NC_000001.9:g.155101159T>C | NCBI36 |
| NG_007493.1:g.53994T>C , LRG_261:g.53994T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.141T>C | ENSP00000502725.1:p.Ser47= | |
| ENST00000392302.7:c.141T>C | ENSP00000376120.3:p.Ser47= | |
| ENST00000497019.7:c.141T>C | ENSP00000436804.2:p.Ser47= | |
| ENST00000524377.7:c.303T>C MANE Select | ENSP00000431418.1:p.Ser101= | |
| ENST00000674537.1:c.141T>C | ENSP00000502725.1:p.Ser47= | |
| ENST00000675461.1:c.303T>C | ENSP00000501668.1:p.Ser101= | |
| ENST00000358660.3:c.303T>C | ENSP00000351486.3:p.Ser101= | |
| ENST00000368196.7:c.303T>C | ENSP00000357179.3:p.Ser101= | |
| ENST00000392302.6:c.213T>C | ENSP00000376120.2:p.Ser71= | |
| ENST00000489021.6:n.313-8890T>C | ||
| ENST00000497019.6:c.213T>C | ENSP00000436804.1:p.Ser71= | |
| ENST00000524377.5:c.303T>C | ENSP00000431418.1:p.Ser101= | |
| ENST00000530298.5:n.361T>C | ||
| ENST00000533630.1:n.325T>C | ||
| NM_001007792.1:c.213T>C , LRG_261t1:c.213T>C | NP_001007793.1:p.Ser71= | |
| NM_001012331.1:c.303T>C , LRG_261t2:c.303T>C | NP_001012331.1:p.Ser101= | |
| NM_002529.3:c.303T>C , LRG_261t3:c.303T>C | NP_002520.2:p.Ser101= | |
| NM_001012331.2:c.303T>C | NP_001012331.1:p.Ser101= | |
| NM_002529.4:c.303T>C MANE Select | NP_002520.2:p.Ser101= |