Linked Data
ClinVar Variation Id:
3230449
ClinVar RCV Id:
RCV004520600
MyVariant Identifiers:
chr1:g.241675324T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512024T>A , CM000663.2:g.241512024T>A | GRCh38 |
| NC_000001.10:g.241675324T>A , CM000663.1:g.241675324T>A | GRCh37 |
| NC_000001.9:g.239741947T>A | NCBI36 |
| NG_012338.1:g.12731A>T , LRG_504:g.12731A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1001A>T | ||
| ENST00000682162.1:c.527A>T | ENSP00000508203.1:n.527A>T | |
| ENST00000682567.1:n.575A>T | ||
| ENST00000683521.1:c.498A>T | ENSP00000506864.1:p.Gly166= | |
| ENST00000684483.1:c.498A>T | ENSP00000507894.1:p.Gly166= | |
| ENST00000366560.4:c.498A>T MANE Select | ENSP00000355518.4:p.Gly166= | |
| ENST00000366560.3:c.498A>T | ENSP00000355518.3:p.Gly166= | |
| ENST00000497042.1:n.194A>T | ||
| NM_000143.3:c.498A>T , LRG_504t1:c.498A>T | NP_000134.2:p.Gly166= | |
| XM_011544132.1:c.270A>T | XP_011542434.1:p.Gly90= | |
| XM_011544132.2:c.270A>T | XP_011542434.1:p.Gly90= | |
| NM_000143.4:c.498A>T MANE Select | NP_000134.2:p.Gly166= |