Linked Data
ClinVar Variation Id:
1963610
ClinVar RCV Id:
RCV002716026
MyVariant Identifiers:
chr1:g.241671954G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508654G>A , CM000663.2:g.241508654G>A | GRCh38 |
| NC_000001.10:g.241671954G>A , CM000663.1:g.241671954G>A | GRCh37 |
| NC_000001.9:g.239738577G>A | NCBI36 |
| NG_012338.1:g.16101C>T , LRG_504:g.16101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1190C>T | ||
| ENST00000682162.1:c.716C>T | ENSP00000508203.1:n.716C>T | |
| ENST00000682567.1:n.764C>T | ||
| ENST00000683521.1:c.687C>T | ENSP00000506864.1:p.Ile229= | |
| ENST00000684161.1:n.1902C>T | ||
| ENST00000684483.1:c.*83C>T | ENSP00000507894.1:n.*83C>T | |
| ENST00000366560.4:c.687C>T MANE Select | ENSP00000355518.4:p.Ile229= | |
| ENST00000366560.3:c.687C>T | ENSP00000355518.3:p.Ile229= | |
| NM_000143.3:c.687C>T , LRG_504t1:c.687C>T | NP_000134.2:p.Ile229= | |
| XM_011544132.1:c.459C>T | XP_011542434.1:p.Ile153= | |
| XM_011544132.2:c.459C>T | XP_011542434.1:p.Ile153= | |
| NM_000143.4:c.687C>T MANE Select | NP_000134.2:p.Ile229= |