Linked Data
ClinVar Variation Id:
1056582
ClinVar RCV Id:
RCV003103983
dbSNP Id:
rs2147921924
MyVariant Identifiers:
chr1:g.241675384T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512084T>A , CM000663.2:g.241512084T>A | GRCh38 |
| NC_000001.10:g.241675384T>A , CM000663.1:g.241675384T>A | GRCh37 |
| NC_000001.9:g.239742007T>A | NCBI36 |
| NG_012338.1:g.12671A>T , LRG_504:g.12671A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.941A>T | ||
| ENST00000682162.1:c.467A>T | ENSP00000508203.1:n.467A>T | |
| ENST00000682567.1:n.515A>T | ||
| ENST00000683521.1:c.438A>T | ENSP00000506864.1:p.Gly146= | |
| ENST00000684483.1:c.438A>T | ENSP00000507894.1:p.Gly146= | |
| ENST00000366560.4:c.438A>T MANE Select | ENSP00000355518.4:p.Gly146= | |
| ENST00000366560.3:c.438A>T | ENSP00000355518.3:p.Gly146= | |
| ENST00000497042.1:n.134A>T | ||
| NM_000143.3:c.438A>T , LRG_504t1:c.438A>T | NP_000134.2:p.Gly146= | |
| XM_011544132.1:c.210A>T | XP_011542434.1:p.Gly70= | |
| XM_011544132.2:c.210A>T | XP_011542434.1:p.Gly70= | |
| NM_000143.4:c.438A>T MANE Select | NP_000134.2:p.Gly146= |