Linked Data
ClinVar Variation Id:
1603913
dbSNP Id:
rs2147925282
MyVariant Identifiers:
chr1:g.241680599G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517299G>A , CM000663.2:g.241517299G>A | GRCh38 |
| NC_000001.10:g.241680599G>A , CM000663.1:g.241680599G>A | GRCh37 |
| NC_000001.9:g.239747222G>A | NCBI36 |
| NG_012338.1:g.7456C>T , LRG_504:g.7456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.653C>T | ||
| ENST00000682162.1:c.179C>T | ENSP00000508203.1:p.Ser60Phe | |
| ENST00000682567.1:n.227C>T | ||
| ENST00000683521.1:c.150C>T | ENSP00000506864.1:p.Phe50= | |
| ENST00000684483.1:c.150C>T | ENSP00000507894.1:p.Phe50= | |
| ENST00000366560.4:c.150C>T MANE Select | ENSP00000355518.4:p.Phe50= | |
| ENST00000366560.3:c.150C>T | ENSP00000355518.3:p.Phe50= | |
| ENST00000493477.1:n.263C>T | ||
| NM_000143.3:c.150C>T , LRG_504t1:c.150C>T | NP_000134.2:p.Phe50= | |
| XM_011544132.1:c.-79C>T | XP_011542434.1:n.-79C>T | |
| XM_011544132.2:c.-79C>T | XP_011542434.1:n.-79C>T | |
| NM_000143.4:c.150C>T MANE Select | NP_000134.2:p.Phe50= |