Linked Data
ClinVar Variation Id:
822970
dbSNP Id:
rs1573880617
MyVariant Identifiers:
chr1:g.241667544G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504244G>A , CM000663.2:g.241504244G>A | GRCh38 |
| NC_000001.10:g.241667544G>A , CM000663.1:g.241667544G>A | GRCh37 |
| NC_000001.9:g.239734167G>A | NCBI36 |
| NG_012338.1:g.20511C>T , LRG_504:g.20511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1409C>T | ||
| ENST00000682162.1:c.935C>T | ENSP00000508203.1:n.935C>T | |
| ENST00000682567.1:n.983C>T | ||
| ENST00000683521.1:c.906C>T | ENSP00000506864.1:p.Gly302= | |
| ENST00000684161.1:n.2121C>T | ||
| ENST00000684483.1:c.*302C>T | ENSP00000507894.1:n.*302C>T | |
| ENST00000366560.4:c.906C>T MANE Select | ENSP00000355518.4:p.Gly302= | |
| ENST00000366560.3:c.906C>T | ENSP00000355518.3:p.Gly302= | |
| NM_000143.3:c.906C>T , LRG_504t1:c.906C>T | NP_000134.2:p.Gly302= | |
| XM_011544132.1:c.678C>T | XP_011542434.1:p.Gly226= | |
| XM_011544132.2:c.678C>T | XP_011542434.1:p.Gly226= | |
| NM_000143.4:c.906C>T MANE Select | NP_000134.2:p.Gly302= |